Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.
Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
Clinical treatments used to change the physiological sexual characteristics of an individual.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.
Any method used for determining the location of and relative distances between genes on a chromosome.
Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
A transcription factor and member of the nuclear receptor family NR5 that is expressed throughout the adrenal and reproductive axes during development. It plays an important role in sexual differentiation, formation of primary steroidogenic tissues, and their functions in post-natal and adult life. It regulates the expression of key steroidogenic enzymes.
Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Mapping of the KARYOTYPE of a cell.
The mechanisms by which the SEX of an individual's GONADS are fixed.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
A transcription factor that plays an essential role in the development of the TESTES. It is encoded by a gene on the Y chromosome and contains a specific HMG-BOX DOMAIN that is found within members of the SOX family of transcription factors.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
The stages of development of the psychological aspects of sexuality from birth to adulthood; i.e., oral, anal, genital, and latent periods.
The external and internal organs related to reproduction.
Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
A plant genus of the family CARYOPHYLLACEAE. The common name of campion is also used with LYCHNIS. The common name of 'pink' can be confused with other plants.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
Genes that are located on the Y CHROMOSOME.
The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.
Genes that are located on the X CHROMOSOME.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
A small aquatic oviparous mammal of the order Monotremata found in Australia and Tasmania.
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
Structures within the CELL NUCLEUS of insect cells containing DNA.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.

Methylation profile of genes on the human X chromosome. (1/29)

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Features of constitutive gr/gr deletion in a Japanese population. (2/29)

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Association between venous leg ulcers and sex chromosome anomalies in men. (3/29)

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Structural variation of the human genome: mechanisms, assays, and role in male infertility. (4/29)

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Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. (5/29)

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Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients. (6/29)

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Trisomy-X with estrous cycle anomalies in two female dogs. (7/29)

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A one-step real-time multiplex PCR for screening Y-chromosomal microdeletions without downstream amplicon size analysis. (8/29)

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Sex chromosome disorders are genetic conditions that occur due to an atypical number or structure of the sex chromosomes, which are X and Y. Normally, females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). However, in sex chromosome disorders, there is a variation in the number or composition of these chromosomes.

The most common sex chromosome disorders include:

1. Turner syndrome (Monosomy X): Occurs when a female has only one X chromosome (45,X). This condition affects about 1 in every 2,500 female births and can lead to short stature, infertility, heart defects, and learning disabilities.
2. Klinefelter syndrome (XXY): Occurs when a male has an extra X chromosome (47,XXY). This condition affects about 1 in every 500-1,000 male births and can lead to tall stature, infertility, breast development, and learning disabilities.
3. Jacobs syndrome (XYY): Occurs when a male has an extra Y chromosome (47,XYY). This condition affects about 1 in every 1,000 male births and can lead to tall stature, learning disabilities, and behavioral issues.
4. Triple X syndrome (XXX): Occurs when a female has an extra X chromosome (47,XXX). This condition affects about 1 in every 1,000 female births and can lead to mild developmental delays and learning disabilities.
5. Other rare sex chromosome disorders: These include conditions like 48,XXXX, 49,XXXXY, and mosaicism (a mixture of cells with different chromosome compositions).

Sex chromosome disorders can have varying degrees of impact on an individual's physical and cognitive development. While some individuals may experience significant challenges, others may have only mild or no symptoms at all. Early diagnosis and appropriate interventions can help improve outcomes for those affected by sex chromosome disorders.

Disorders/Differences of Sex Development (DSDs) related to sex chromosomes are conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. These disorders are caused by differences in the number or structure of the sex chromosomes (X and Y). Some examples of DSDs related to sex chromosomes include:

1. Turner Syndrome (45,X): This condition occurs when an individual has only one X chromosome instead of the typical pair. Affected individuals typically have female physical characteristics but may have short stature, webbed neck, and other features. They usually have underdeveloped ovaries and are unable to menstruate or bear children without medical intervention.

2. Klinefelter Syndrome (47,XXY): This condition occurs when an individual has an extra X chromosome, resulting in a total of 3 sex chromosomes (XXY). Affected individuals typically have male physical characteristics but may have reduced fertility, breast development, and other features.

3. Triple X Syndrome (47,XXX): This condition occurs when an individual has an extra X chromosome, resulting in a total of 3 sex chromosomes (XXX). Affected individuals typically have normal female physical characteristics but may have learning disabilities and other developmental delays.

4. Jacobs Syndrome (47,XYY): This condition occurs when an individual has an extra Y chromosome, resulting in a total of 3 sex chromosomes (XYY). Affected individuals typically have normal male physical characteristics but may have learning disabilities and other developmental delays.

5. Other variations such as 45,X/46,XY mosaicism or 46,XX/46,XY true hermaphroditism can also occur, leading to a range of physical and developmental characteristics that may not fit typical definitions of male or female.

It's important to note that individuals with DSDs should receive comprehensive medical care from a team of specialists who can provide individualized treatment plans based on their specific needs and circumstances.

'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.

There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.

Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

Disorders of Sex Development (DSD) are a group of conditions that occur when there is a difference in the development and assignment of sex characteristics. These differences may be apparent at birth, at puberty, or later in life. DSD can affect chromosomes, gonads, genitals, or secondary sexual characteristics, and can result from genetic mutations or environmental factors during fetal development.

DSDs were previously referred to as "intersex" conditions, but the term "Disorders of Sex Development" is now preferred in medical settings because it is more descriptive and less stigmatizing. DSDs are not errors or abnormalities, but rather variations in human development that require sensitive and individualized care.

The diagnosis and management of DSD can be complex and may involve a team of healthcare providers, including endocrinologists, urologists, gynecologists, psychologists, and genetic counselors. Treatment options depend on the specific type of DSD and may include hormone therapy, surgery, or other interventions to support physical and emotional well-being.

Sexual development is a multidimensional process that includes physical, cognitive, emotional, and social aspects. It refers to the changes and growth that occur in an individual from infancy to adulthood related to sexuality, reproduction, and gender identity. This process involves the maturation of primary and secondary sex characteristics, the development of sexual attraction and desire, and the acquisition of knowledge about sexual health and relationships.

Physical aspects of sexual development include the maturation of reproductive organs, hormonal changes, and the development of secondary sexual characteristics such as breast development in females and facial hair growth in males. Cognitive aspects involve the development of sexual knowledge, attitudes, and values. Emotional aspects refer to the emergence of sexual feelings, desires, and fantasies, as well as the ability to form intimate relationships. Social aspects include the development of gender roles and identities, communication skills related to sexuality, and the ability to navigate social norms and expectations around sexual behavior.

Sexual development is a complex and ongoing process that is influenced by various factors such as genetics, hormones, environment, culture, and personal experiences. It is important to note that sexual development varies widely among individuals, and there is no one "normal" or "correct" way for it to unfold.

'46, XX Disorders of Sex Development' (DSD) is a medical term used to describe individuals who have typical female chromosomes (46, XX) but do not develop typical female physical characteristics. This condition is also sometimes referred to as 'Complete Androgen Insensitivity Syndrome' (CAIS).

Individuals with 46, XX DSD/CAIS have testes instead of ovaries, and they typically do not have a uterus or fallopian tubes. They usually have female external genitalia that appear normal or near-normal, but they may also have undescended testes or inguinal hernias. Because their bodies are insensitive to androgens (male hormones), they do not develop male physical characteristics such as a penis or facial hair.

Individuals with 46, XX DSD/CAIS are typically raised as females and may not become aware of their condition until puberty, when they do not menstruate or develop secondary sexual characteristics such as breasts. Treatment for this condition typically involves surgery to remove the undescended testes and hormone replacement therapy to promote the development of secondary sexual characteristics.

It's important to note that individuals with 46, XX DSD/CAIS can live healthy and fulfilling lives, but they may face unique challenges related to their gender identity, sexuality, and fertility. It is essential to provide these individuals with comprehensive medical care, emotional support, and access to resources and information to help them navigate these challenges.

Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.

The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.

Sex reassignment procedures, also known as gender confirmation surgery or sex change surgery, refer to surgical procedures that aim to alter a person's physical appearance and sexual characteristics to match their gender identity. These procedures can include a variety of surgeries such as genital reconstruction, chest reconstruction (for transgender women), hysterectomy, oophorectomy, orchidectomy, and metoidioplasty or phalloplasty (for transgender men). It is important to note that sex reassignment procedures are just one aspect of the transition process for many transgender individuals, which may also include hormone therapy, legal name changes, and social transitions.

Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).

Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.

The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.

Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.

It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.

Virilism is a condition that results from excessive exposure to androgens (male hormones) such as testosterone. It can occur in both males and females, but it is more noticeable in women and children. In females, virilism can cause various masculinizing features like excess body hair, deepened voice, enlarged clitoris, and irregular menstrual cycles. In children, it can lead to premature puberty and growth abnormalities. Virilism is often caused by conditions that involve the adrenal glands or ovaries, including tumors, congenital adrenal hyperplasia, and certain medications.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

'46, XX Testicular Disorders of Sex Development' (DSD) is a medical condition where an individual is genetically female (has two X chromosomes) but has testes instead of ovaries, and typically has a male or ambiguous phenotypic appearance. This condition results from disorders in the hormonal regulation of sexual differentiation during fetal development.

Individuals with 46, XX DSD may have typical male external genitalia, atypical genitalia, or female external genitalia with underdeveloped labia and a clitoris that resembles a small penis. They usually do not have a uterus or fallopian tubes, but they may have a vagina.

The condition is often diagnosed in infancy or early childhood due to the presence of ambiguous genitalia or inguinal hernias (which can contain testicular tissue). In some cases, it may not be diagnosed until puberty when the individual fails to menstruate and has a lack of secondary sexual characteristics such as breast development.

Treatment for 46, XX DSD typically involves surgical removal of the testes to prevent the risk of gonadal tumors, hormone replacement therapy to promote the development of secondary sexual characteristics, and psychological support to help individuals cope with issues related to gender identity and sexual orientation.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Gonadoblastoma is a rare, typically benign, slow-growing tumor that primarily affects the gonads (ovaries or testes). It most commonly occurs in individuals with disorders of sexual development, particularly those with gonadal dysgenesis and a 46,XY karyotype. The tumor is composed of germ cells and sex cord stromal cells, which differentiate into various cell types found within the gonads.

Gonadoblastomas are usually asymptomatic and are often discovered incidentally during imaging studies or surgical procedures for other conditions. In some cases, they may produce hormones leading to precocious puberty or virilization. Although typically benign, there is a risk of malignant transformation into germ cell tumors such as dysgerminoma, seminoma, or teratoma. Regular follow-up and monitoring are essential for early detection and management of potential complications. Treatment usually involves surgical removal of the affected gonad.

Steroidogenic Factor 1 (SF-1 or NR5A1) is a nuclear receptor protein that functions as a transcription factor, playing a crucial role in the development and regulation of the endocrine system. It is involved in the differentiation and maintenance of steroidogenic tissues such as the adrenal glands, gonads (ovaries and testes), and the hypothalamus and pituitary glands in the brain.

SF-1 regulates the expression of genes that are essential for steroid hormone biosynthesis, including enzymes involved in the production of cortisol, aldosterone, and sex steroids (androgens, estrogens). Mutations in the SF-1 gene can lead to various disorders related to sexual development, adrenal function, and fertility.

In summary, Steroidogenic Factor 1 is a critical transcription factor that regulates the development and function of steroidogenic tissues and the biosynthesis of steroid hormones.

Ovotesticular Disorders of Sex Development (OT-DSD), also known as true gonadal intersex, are rare conditions where the individual has both ovarian and testicular tissue in their gonads. This condition is characterized by the presence of both ovarian and testicular structures in the same person, which can be found in various combinations and locations within the body.

Individuals with OT-DSD may have varying degrees of development of internal reproductive organs (such as the uterus, fallopian tubes, or vas deferens) and external genitalia that may not clearly fit typical definitions of male or female. The chromosomal patterns in these individuals can also vary, with 46,XX, 46,XY, or mosaic karyotypes (a combination of both).

The diagnosis of OT-DSD is typically made during infancy, adolescence, or adulthood, depending on the individual's presentation. Treatment usually involves surgical management of the gonads and genitalia, hormone replacement therapy, and psychological support for the person and their family. The ultimate goal is to help the individual establish a gender identity that aligns with their personal sense of self while ensuring their physical health and well-being.

The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.

The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.

It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.

Antley-Bixler syndrome phenotype is a medical term used to describe a set of physical features that are characteristic of Antley-Bixler syndrome, a rare genetic disorder. The syndrome is caused by mutations in the genes that provide instructions for making proteins involved in the development of bones and other tissues in the body.

The Antley-Bixler syndrome phenotype typically includes:

1. Craniosynostosis: This is a condition where the bones in the skull fuse together prematurely, leading to an abnormally shaped head.
2. Abnormalities of the face and skull: These may include a prominent forehead, wide-set eyes, a beaked nose, and low-set ears.
3. Bone abnormalities: These may include bowed or bent limbs, fusion of bones in the hands and feet, and other skeletal malformations.
4. Respiratory problems: Some individuals with Antley-Bixler syndrome may have narrow airways, which can lead to breathing difficulties.
5. Genital abnormalities: In some cases, males with Antley-Bixler syndrome may have undescended testicles.

It is important to note that not all individuals with Antley-Bixler syndrome will have all of these features, and the severity of the condition can vary widely from person to person. If you suspect that your child may have Antley-Bixler syndrome, it is important to consult with a medical professional for further evaluation and diagnosis.

Sex determination analysis is a medical or biological examination used to establish the genetic or phenotypic sex of an individual. This can be done through various methods, including:

1. Genetic testing: Examination of an individual's DNA to identify the presence of specific sex chromosomes (XX for females and XY for males). This is typically performed through a blood or tissue sample.
2. Chromosomal analysis: Microscopic examination of an individual's chromosomes to determine their number and structure. In humans, females typically have 46 chromosomes, including two X chromosomes (46,XX), while males typically have 46 chromosomes, including one X and one Y chromosome (46,XY).
3. Phenotypic analysis: Observation of an individual's physical characteristics, such as the presence or absence of certain sex organs or secondary sexual characteristics, to determine their phenotypic sex.

Sex determination analysis is used in various medical and research contexts, including prenatal testing, diagnosis of disorders of sex development (DSDs), forensic investigations, and population studies. It's important to note that while sex determination analysis can provide information about an individual's genetic or phenotypic sex, it does not necessarily reflect their gender identity, which is a personal sense of being male, female, or something else.

Androgen Insensitivity Syndrome (AIS) is a genetic condition that occurs in individuals who are genetically male (have one X and one Y chromosome) but are resistant to androgens, which are hormones that play a role in male sexual development. This resistance is caused by changes (mutations) in the gene for the androgen receptor.

There are three main types of AIS: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS).

In CAIS, individuals are completely resistant to androgens, which results in the development of female external genitalia at birth. Despite having testes, these individuals do not have a functioning male reproductive system and typically have a female gender identity. They may be diagnosed during adolescence when they do not begin to menstruate or experience other signs of puberty.

In PAIS and MAIS, the degree of androgen insensitivity varies, resulting in a range of physical characteristics that can include both male and female features. These individuals may have ambiguous genitalia at birth, and their gender identity may not align with their genetic sex.

It's important to note that people with AIS are typically healthy and do not have an increased risk of medical conditions beyond those related to their hormonal differences. However, they may face challenges related to their gender identity, sexual development, and fertility. It is recommended that individuals with AIS receive comprehensive medical care and support from a team of healthcare professionals who specialize in this condition.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

"Sex determination processes" refer to the series of genetic and biological events that occur during embryonic and fetal development which lead to the development of male or female physical characteristics. In humans, this process is typically determined by the presence or absence of a Y chromosome in the fertilized egg. If the egg has a Y chromosome, it will develop into a male (genetically XY) and if it does not have a Y chromosome, it will develop into a female (genetically XX).

The sex determination process involves the activation and repression of specific genes on the sex chromosomes, which direct the development of the gonads (ovaries or testes) and the production of hormones that influence the development of secondary sexual characteristics. This includes the development of internal and external genitalia, as well as other sex-specific physical traits.

It is important to note that while sex is typically determined by genetics and biology, gender identity is a separate construct that can be self-identified and may not align with an individual's biological sex.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

The Sex-Determining Region Y (SRY) protein is a transcription factor that plays a critical role in male sex determination. It is encoded by the SRY gene, which is located on the Y chromosome in humans and many other mammal species. The primary function of the SRY protein is to initiate the development of the testes during embryonic development.

In the absence of a functional SRY protein, the gonads will develop into ovaries. With a functional SRY protein, the gonads will develop into testes, which then produce androgens, including testosterone, that are necessary for the development of male secondary sexual characteristics. Mutations in the SRY gene can lead to sex reversal, where an individual with a Y chromosome develops as a female due to non-functional or absent SRY protein.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

"Sex characteristics" refer to the anatomical, chromosomal, and genetic features that define males and females. These include both primary sex characteristics (such as reproductive organs like ovaries or testes) and secondary sex characteristics (such as breasts or facial hair) that typically develop during puberty. Sex characteristics are primarily determined by the presence of either X or Y chromosomes, with XX individuals usually developing as females and XY individuals usually developing as males, although variations and exceptions to this rule do occur.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

Psychosexual development refers to the theory of personality development in which an individual's sexual desires and behaviors are shaped by their experiences and relationships, particularly during childhood and adolescence. This concept was first introduced by Sigmund Freud as part of his psychoanalytic theory. According to Freud, psychosexual development occurs in five stages: oral, anal, phallic, latent, and genital.

During each stage, the individual derives pleasure from a different erogenous zone, and their experiences and relationships during this time can have lasting effects on their sexual desires and behaviors later in life. For example, unresolved conflicts during the phallic stage, which is centered around the genitals, may lead to issues with sexual intimacy and relationships in adulthood.

It's important to note that while Freud's theory of psychosexual development has been influential in the field of psychology, it is not universally accepted and has been criticized for its lack of empirical evidence and cultural bias.

Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.

"Sex factors" is a term used in medicine and epidemiology to refer to the differences in disease incidence, prevalence, or response to treatment that are observed between males and females. These differences can be attributed to biological differences such as genetics, hormones, and anatomy, as well as social and cultural factors related to gender.

For example, some conditions such as autoimmune diseases, depression, and osteoporosis are more common in women, while others such as cardiovascular disease and certain types of cancer are more prevalent in men. Additionally, sex differences have been observed in the effectiveness and side effects of various medications and treatments.

It is important to consider sex factors in medical research and clinical practice to ensure that patients receive appropriate and effective care.

Chromosome pairing, also known as chromosome synapsis, is a process that occurs during meiosis, which is the type of cell division that results in the formation of sex cells or gametes (sperm and eggs).

In humans, each cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. Of these, 22 pairs are called autosomal chromosomes, and they are similar in size and shape between the two copies in a pair. The last pair is called the sex chromosomes (X and Y), which determine the individual's biological sex.

During meiosis, homologous chromosomes (one from each parent) come together and pair up along their lengths in a process called synapsis. This pairing allows for the precise alignment of corresponding genes and genetic regions between the two homologous chromosomes. Once paired, the chromosomes exchange genetic material through a process called crossing over, which increases genetic diversity in the resulting gametes.

After crossing over, the homologous chromosomes separate during meiosis I, followed by the separation of sister chromatids (the two copies of each chromosome) during meiosis II. The end result is four haploid cells, each containing 23 chromosomes, which then develop into sperm or eggs.

Chromosome pairing is a crucial step in the process of sexual reproduction, ensuring that genetic information is accurately passed from one generation to the next while also promoting genetic diversity through recombination and independent assortment of chromosomes.

Chromosomes in plants are thread-like structures that contain genetic material, DNA, and proteins. They are present in the nucleus of every cell and are inherited from the parent plants during sexual reproduction. Chromosomes come in pairs, with each pair consisting of one chromosome from each parent.

In plants, like in other organisms, chromosomes play a crucial role in inheritance, development, and reproduction. They carry genetic information that determines various traits and characteristics of the plant, such as its physical appearance, growth patterns, and resistance to diseases.

Plant chromosomes are typically much larger than those found in animals, making them easier to study under a microscope. The number of chromosomes varies among different plant species, ranging from as few as 2 in some ferns to over 1000 in certain varieties of wheat.

During cell division, the chromosomes replicate and then separate into two identical sets, ensuring that each new cell receives a complete set of genetic information. This process is critical for the growth and development of the plant, as well as for the production of viable seeds and offspring.

"Silene" is a genus of flowering plants in the family Caryophyllaceae. It includes over 700 species that are found worldwide, particularly in temperate regions. These plants are commonly known as catchflies or campions. They are usually herbaceous and can vary in size from small annuals to large perennials. The flowers of Silene species are typically radial symmetrical with five distinct petals, often with notched or lobed ends. Some species have inflated calyxes that enclose the flower buds, giving them a bladder-like appearance.

However, it's important to note that "Silene" is not a medical term and does not have a direct application in human health or medicine.

X chromosome inactivation (XCI) is a process that occurs in females of mammalian species, including humans, to compensate for the difference in gene dosage between the sexes. Females have two X chromosomes, while males have one X and one Y chromosome. To prevent females from having twice as many X-linked genes expressed as males, one of the two X chromosomes in each female cell is randomly inactivated during early embryonic development.

XCI results in the formation of a condensed and transcriptionally inactive structure called a Barr body, which can be observed in the nucleus of female cells. This process ensures that females express similar levels of X-linked genes as males, maintaining a balanced gene dosage. The choice of which X chromosome is inactivated (maternal or paternal) is random and occurs independently in each cell, leading to a mosaic expression pattern of X-linked genes in different cells and tissues of the female body.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

Chromosome segregation is the process that occurs during cell division (mitosis or meiosis) where replicated chromosomes are separated and distributed equally into two daughter cells. Each chromosome consists of two sister chromatids, which are identical copies of genetic material. During chromosome segregation, these sister chromatids are pulled apart by a structure called the mitotic spindle and moved to opposite poles of the cell. This ensures that each new cell receives one copy of each chromosome, preserving the correct number and composition of chromosomes in the organism.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, which are triangular-shaped glands located on top of the kidneys. The adrenal glands are responsible for producing several essential hormones, including cortisol, aldosterone, and androgens.

CAH is caused by mutations in genes that code for enzymes involved in the synthesis of these hormones. The most common form of CAH is 21-hydroxylase deficiency, which affects approximately 90% to 95% of all cases. Other less common forms of CAH include 11-beta-hydroxylase deficiency and 3-beta-hydroxysteroid dehydrogenase deficiency.

The severity of the disorder can vary widely, depending on the degree of enzyme deficiency. In severe cases, the lack of cortisol production can lead to life-threatening salt wasting and electrolyte imbalances in newborns. The excess androgens produced due to the enzyme deficiency can also cause virilization, or masculinization, of female fetuses, leading to ambiguous genitalia at birth.

In milder forms of CAH, symptoms may not appear until later in childhood or even adulthood. These may include early puberty, rapid growth followed by premature fusion of the growth plates and short stature, acne, excessive hair growth, irregular menstrual periods, and infertility.

Treatment for CAH typically involves replacing the missing hormones with medications such as hydrocortisone, fludrocortisone, and/or sex hormones. Regular monitoring of hormone levels and careful management of medication doses is essential to prevent complications such as adrenal crisis, growth suppression, and osteoporosis.

In severe cases of CAH, early diagnosis and treatment can help prevent or minimize the risk of serious health problems and improve quality of life. Genetic counseling may also be recommended for affected individuals and their families to discuss the risks of passing on the disorder to future generations.

Y-linked genes are a type of sex-limited gene that is located on the Y chromosome. These genes are only present in males because they are passed from father to son through the paternal Y chromosome during reproduction. They are not paired with any corresponding genes on the X chromosome, and therefore, they do not have a counterpart to complement their function.

Y-linked genes play an essential role in sex determination and male development. For example, the SRY gene, which is located on the Y chromosome, encodes a protein that triggers testis development during embryonic development. Other Y-linked genes are involved in spermatogenesis, the process of producing sperm cells.

Since Y-linked genes are not present in females, they do not have any direct impact on female traits or characteristics. However, mutations in Y-linked genes can cause various genetic disorders that affect male fertility and development, such as Klinefelter syndrome, XYY syndrome, and other sex chromosome aneuploidies.

The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.

The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.

Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.

Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.

X-linked genes are those genes that are located on the X chromosome. In humans, females have two copies of the X chromosome (XX), while males have one X and one Y chromosome (XY). This means that males have only one copy of each X-linked gene, whereas females have two copies.

X-linked genes are important in medical genetics because they can cause different patterns of inheritance and disease expression between males and females. For example, if a mutation occurs in an X-linked gene, it is more likely to affect males than females because males only have one copy of the gene. This means that even a single mutated copy of the gene can cause the disease in males, while females may be carriers of the mutation and not show any symptoms due to their second normal copy of the gene.

X-linked recessive disorders are more common in males than females because they only have one X chromosome. Examples of X-linked recessive disorders include Duchenne muscular dystrophy, hemophilia, and color blindness. In contrast, X-linked dominant disorders can affect both males and females, but females may have milder symptoms due to their second normal copy of the gene. Examples of X-linked dominant disorders include Rett syndrome and incontinentia pigmenti.

Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.

In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.

Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.

Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.

Artificial bacterial chromosomes (ABCs) are synthetic replicons that are designed to function like natural bacterial chromosomes. They are created through the use of molecular biology techniques, such as recombination and cloning, to construct large DNA molecules that can stably replicate and segregate within a host bacterium.

ABCs are typically much larger than traditional plasmids, which are smaller circular DNA molecules that can also replicate in bacteria but have a limited capacity for carrying genetic information. ABCs can accommodate large DNA inserts, making them useful tools for cloning and studying large genes, gene clusters, or even entire genomes of other organisms.

There are several types of ABCs, including bacterial artificial chromosomes (BACs), P1-derived artificial chromosomes (PACs), and yeast artificial chromosomes (YACs). BACs are the most commonly used type of ABC and can accommodate inserts up to 300 kilobases (kb) in size. They have been widely used in genome sequencing projects, functional genomics studies, and protein production.

Overall, artificial bacterial chromosomes provide a powerful tool for manipulating and studying large DNA molecules in a controlled and stable manner within bacterial hosts.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

Chromosome painting is a molecular cytogenetic technique used to identify and visualize the specific chromosomes or chromosomal regions that are present in an abnormal location or number in a cell. This technique uses fluorescent probes that bind specifically to different chromosomes or chromosomal regions, allowing for their identification under a fluorescence microscope.

The process of chromosome painting involves labeling different chromosomes or chromosomal regions with fluorescent dyes of distinct colors. The labeled probes are then hybridized to the metaphase chromosomes of a cell, and any excess probe is washed away. The resulting fluorescent pattern allows for the identification of specific chromosomes or chromosomal regions that have been gained, lost, or rearranged in the genome.

Chromosome painting has numerous applications in medical genetics, including prenatal diagnosis, cancer cytogenetics, and constitutional genetic disorders. It can help to identify chromosomal abnormalities such as translocations, deletions, and duplications that may contribute to disease or cancer development.

Bacterial chromosomes are typically circular, double-stranded DNA molecules that contain the genetic material of bacteria. Unlike eukaryotic cells, which have their DNA housed within a nucleus, bacterial chromosomes are located in the cytoplasm of the cell, often associated with the bacterial nucleoid.

Bacterial chromosomes can vary in size and structure among different species, but they typically contain all of the genetic information necessary for the survival and reproduction of the organism. They may also contain plasmids, which are smaller circular DNA molecules that can carry additional genes and can be transferred between bacteria through a process called conjugation.

One important feature of bacterial chromosomes is their ability to replicate rapidly, allowing bacteria to divide quickly and reproduce in large numbers. The replication of the bacterial chromosome begins at a specific origin point and proceeds in opposite directions until the entire chromosome has been copied. This process is tightly regulated and coordinated with cell division to ensure that each daughter cell receives a complete copy of the genetic material.

Overall, the study of bacterial chromosomes is an important area of research in microbiology, as understanding their structure and function can provide insights into bacterial genetics, evolution, and pathogenesis.

I'm sorry for any confusion, but the term "platypus" is not a medical concept or condition. It is a type of mammal native to Australia, recognized by its unique appearance with a duck-like bill, webbed feet, and a body covered in dense, waterproof fur. If you have any questions about medical terminology or concepts, I'd be happy to help clarify!

Sex chromatin, also known as the Barr body, is an inactive X chromosome found in the nucleus of female cells. In females, one of the two X chromosomes is randomly inactivated during embryonic development to ensure that the dosage of X-linked genes is equivalent between males (who have one X chromosome) and females (who have two X chromosomes). The inactive X chromosome condenses and forms a compact structure called a sex chromatin body or Barr body, which can be observed during microscopic examination of cell nuclei. This phenomenon is known as X-inactivation and helps to prevent an overexpression of X-linked genes that could lead to developmental abnormalities.

Chromosomes in insects are thread-like structures that contain genetic material, made up of DNA and proteins, found in the nucleus of a cell. In insects, like other eukaryotes, chromosomes come in pairs, with one set inherited from each parent. They are crucial for the inheritance, storage, and transmission of genetic information from one generation to the next.

Insects typically have a diploid number of chromosomes (2n), which varies among species. The chromosomes are present in the cell's nucleus during interphase as loosely coiled structures called chromatin. During cell division, they condense and become visible under the microscope as distinct, X-shaped structures called metaphase chromosomes.

The insect chromosome set includes autosomal chromosomes, which are identical in appearance and function between males and females, and sex chromosomes, which differ between males and females. In many insects, the males have an XY sex chromosome constitution, while the females have an XX sex chromosome constitution. The sex chromosomes carry genes that determine the sex of the individual.

Insect chromosomes play a vital role in various biological processes, including development, reproduction, and evolution. They are also essential for genetic research and breeding programs in agriculture and medicine.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Meiosis is a type of cell division that results in the formation of four daughter cells, each with half the number of chromosomes as the parent cell. It is a key process in sexual reproduction, where it generates gametes or sex cells (sperm and eggs).

The process of meiosis involves one round of DNA replication followed by two successive nuclear divisions, meiosis I and meiosis II. In meiosis I, homologous chromosomes pair, form chiasma and exchange genetic material through crossing over, then separate from each other. In meiosis II, sister chromatids separate, leading to the formation of four haploid cells. This process ensures genetic diversity in offspring by shuffling and recombining genetic information during the formation of gametes.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

Human chromosome pair 17 consists of two rod-shaped structures present in the nucleus of each human cell. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex called chromatin. Chromosomes carry genetic information in the form of genes, which are segments of DNA that contain instructions for the development and function of an organism.

Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 17 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome 17 is a medium-sized chromosome and contains an estimated 800 million base pairs of DNA. It contains approximately 1,500 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome 17 is associated with several genetic disorders, including inherited cancer syndromes such as Li-Fraumeni syndrome and hereditary nonpolyposis colorectal cancer (HNPCC). Mutations in genes located on chromosome 17 can increase the risk of developing various types of cancer, including breast, ovarian, colon, and pancreatic cancer.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. This includes patients with Turner ... Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in ... "Disorders of Sex Development". Organisation Intersex International Australia. "Why Not "Disorders of Sex Development"?". UK ... Beh H, Diamond M (2006). "Variations of Sex Development Instead of Disorders of Sex Development". Archives of Disease in ...
People with this disorder have male external genitalia. In most people with 46,XX testicular disorder of sex development, the ... Polyploidization can occur before and after the development of sex chromosomes. If it occurs after sex chromosomes are ... the sex-determination systems presently observed are products of sex chromosome turnover. Sex chromosome turnover is a process ... Recombination of chromosomes may lead to heterogamety before the development of sex chromosomes, or recombination may be ...
... the function of the human sex chromosomes; and disorders of sexual development. After graduating from New Utrecht High School ... sex determination and differentiation (and their disorders) and disease-causing pathology. He was a past president of the ... for his research and writing on the effect of hormones and the central nervous system on growth and puberty and their disorders ... made many seminal contributions the understanding of pediatric endocrinology including extensive studies on the development and ...
2007). "Frontal Lobe Development in Childhood ", The Human Frontal Lobe: Functions and Disorders, 2nd Edition. Eds. Miller, BL ... Hall H, Hunt P, Hassold T. (2006). Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy ... 2009).Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev. 15(4): 328-332. ... X & Y variations are common but frequently undiagnosed genetic conditions that differ from the normal sex chromosome pairings ...
CDKL5 deficiency disorder, Fragile X syndrome, etc. XCI serves a central function in sex-chromosome dosage compensation. Xi ... In human development, X chromosome reactivation also occurs in PGCs. In the ICM of human embryos, however, X reactivation does ... for sex-chromosome dosage compensation. In eutherians, XCI is the random inactivation of one of the X chromosomes, silencing ... the paternal X chromosome is already partially silenced at the zygote stage by imprinted XCI, suggesting that sex-chromosome ...
Some of the most frequent genetic disorders are abnormalities of sex chromosomes, but polysomies rarely occur. 49,XXXXY ... During egg or sperm development the 21st chromosome does not separate during either the egg or sperm development. The result is ... X chromosome. Polysomy of sex chromosomes is caused by successive nondisjunctions in meiosis I and II. In squamous cell ... Chromosome 1 may contain a gene responsible for tumor development and lead to changes in the karyotype, including fusion of the ...
"Prenatal diagnosis of sex chromosome abnormalities". In Milunsky, Aubrey; Milunsky, Jeff M. (eds.). Genetic disorders and the ... Pubertal development is normal and these men are usually fertile. The Royal Society website. Retrieved 21 July 2008 Archived 9 ... Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... ISBN 978-1-4051-9087-9. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ...
Most 47,XYY males have normal sexual development and have normal fertility. In contrast to the other common sex chromosome ... "Prenatal diagnosis of sex chromosome abnormalities". In Milunsky, Aubrey; Milunsky, Jeff M. (eds.). Genetic disorders and the ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ...
"Disorders of Sex Development Loci☆". Disorders of Sex Development Loci. Elsevier. doi:10.1016/B978-0-12-809633-8.06552-3. ISBN ... The effects of excessive androgens differ in fetuses with XX chromosome (female) and XY chromosomes (male). In XX chromosome ... bipolar disorders, eating disorders, personality disorders, schizophrenia disorders, trauma and stress-related disorders, etc. ... Abnormal genital development includes disorders of fetal origin, disorders in androgen synthesis or action, disorders in anti- ...
XX Testicular Disorder of Sex Development OMIM entries on 46,XX Testicular Disorder of Sex Development Genes,+sry at the U.S. ... Monotremes lack SRY and some of their sex chromosomes share homology with bird sex chromosomes. SRY is a quickly evolving gene ... SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex ... "Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes". Genome Research. 18 (6): 965-73. doi: ...
Overall, sex chromosome tetrasomy and pentasomy disorders occur in 1 in 18,000 to 1 in 100,000 male live births, and are ... as the condition is typified by a 48-chromosome complement rather than the 46 chromosomes observed in normal human development ... "Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome ... It is suspected to be underdiagnosed, as are other sex chromosome disorders. Life outcomes vary; some women have had education ...
XX Testicular Disorders/Differences of Sex Development". Nonsyndromic 46,XX Testicular Disorders of Sex Development. PMID ... X chromosome, for other conditions related to the X chromosome For a condition that causes people who have XY chromosomes to ... XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete ... XX testicular disorder of sex development. About 20 percent of those with 46 XX testicular disorder of sex development do not ...
In the context of sex chromosome disorders specifically, tetrasomy refers to karyotypes with four sex chromosomes, and ... are survivable with relatively mild phenotypes due to the paucity of genes vital to basic development on the sex chromosomes. ... "Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome ... Sex chromosome tetrasomy and pentasomy disorders are thought to be underdiagnosed, and people may exist who have milder ...
Beh, Hazel; Diamond, Milton (July 27, 2006). "Variations of Sex Development Instead of Disorders of Sex Development [sic]". ADC ... However, there may be problems with sex hormone levels, overall sexual development, and altered numbers of sex chromosomes. ... "Ovotesticular Disorder of Sex Development". NORD (National Organization for Rare Disorders). Archived from the original on 29 ... "Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology". The Journal of Sex Research. 58 ...
... is caused by two extra copies of the Y chromosome, the chromosome that determines male sexual development. Sex ... XYYY and other high-level sex chromosome aneuploidies such as XXXY syndrome and tetrasomy X-or indeed 49-chromosome disorders ... Sex chromosome aneuploidies occur via a process known as non-disjunction, where chromosomes fail to divide properly during cell ... and poor dental development. These findings are also observed in other sex chromosome aneuploidies. Height is normal to tall, ...
... "disorders of sex development". Indian middle-distance runner Santhi Soundarajan wins the silver medal in 800 m at the 2006 ... the IAAF changes the regulations to exclude from the regulations high testosterone associated with XX sex chromosomes. Semenya ... "disorders of sex development" language into the International Classification of Diseases, stating that this causes "harm" and ... The Swiss National Advisory Commission Biomedical Ethics publishes a report on the management of differences of sex development ...
... on the X chromosome, and also the AMELY gene in males, on the Y chromosome. They are involved in amelogenesis, the development ... located on the X and Y chromosomes at Xp22.1-Xp22.3 and Yp 11.2 [5]. The amelogenin gene's location on sex chromosomes has ... Mutations in AMELX can cause amelogenesis imperfecta, a disorder of tooth enamel development. Bansal, Ajay Kumar; Shetty, Devi ... Differences between the X chromosome and Y chromosome versions of the amelogenin gene (AMELX and AMELY respectively) enable it ...
Autosomal means that the gene responsible for the mutation and disorder is found on a non-sex chromosome and that either the ... This gene codes for the instructions of a protein that is integral in the development and maintenance of bone and brain tissue ... The disorder is very rare and has only been described in a few number of cases worldwide. While the disorder can be genetically ... Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder ...
... is a genetic disorder caused by a sex chromosome monosomy, compared to the two sex chromosomes (XX or XY) in most people, it ... This may be a consequence of shared genes on the X chromosome in both eye and ovary development. Nearly half of cases have ... Other human sex chromosome aneuploids: XYY syndrome, Klinefelter syndrome (XXY), Triple X syndrome, Noonan syndrome, a disorder ... Growth disorders, Rare syndromes, Wikipedia medicine articles ready to translate, Sex chromosome aneuploidies, Syndromes ...
Bender B, Puck M, Salbenblatt J, Robinson A (1986). Smith S (ed.). Cognitive development of children with sex chromosome ... Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. If the X chromosome has a ... Chromosomes, Chromosomes (human), Cytogenetics, Sex-determination systems, Sexual dimorphism, Genes on human chromosome X). ... The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females ...
... one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is ... Allan-Herndon-Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe ... In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are ... A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, ...
A number of disorders have been reported as comorbid with sex chromosome aneuploidies, including pentasomy X. In one case ... Lenroot RK, Lee NR, Giedd JN (2009). "Effects of Sex Chromosome Aneuploidies on Brain Development: Evidence From Neuroimaging ... "Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome ... For sex chromosome tetrasomy and pentasomy disorders as a whole, good prognosis is linked to strong parental and personal ...
22 autosomal chromosomes and one sex chromosome. As stated above, EEC syndrome is an autosomal dominant disorder. This means ... Because these two events occur at roughly the same time in embryological development, abnormalities found in this syndrome can ... A normal human karyotype includes 22 pairs of autosomal or non-sex chromosomes and one pair of sex chromosomes, constituting a ... Chromosome 19, within the region of D19S894 and D19S416 has been postulated as the locus for the abnormalities found in EEC ...
The main function of this gene is to promote female sex development and repress male sex development. The WNT4 gene provides ... this protein is essential in development of the ovaries and development of oocytes, or female egg cells. As said, this disorder ... of chromosome one, which is denoted as (1p35). 1 denotes the chromosome number, p denotes the arm, and 35 denotes the band that ... Biason-Lauber, Konrad, A, D (2008). "WNT4 and sex development" (PDF). Sexual Development. 2 (4-5): 210-218. doi:10.1159/ ...
... one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is ... Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and ... In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are ... A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, ...
... rather than the sex-linked 23rd chromosome. Being a recessive disorder, the disease can only be inherited from both parents ... gross motor development Delayed mental development Delayed fine motor skill development Delayed speech and language development ... which maps to chromosome 6p22. More than 47 disease-causing mutations have been identified for the disorder, all of which lead ... a Disorder of GABA Metabolism". Brain and Development. 33 (9): 796-805. doi:10.1016/j.braindev.2011.04.013. PMC 4385391. PMID ...
... is a sex development differnece associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. Mixed gonadal ... Bashamboo A, McElreavey K (2015). "Human sex-determination and disorders of sex-development (DSD)". Seminars in Cell & ... XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model". Biology of Sex Differences. 9 (8): 8. doi:10.1186/ ... Human Sex Development and Its Disorders". Molecular Mechanisms of Cell Differentiation in Gonad Development. Results and ...
Examples of autosomal recessive disorders are albinism, cystic fibrosis. X-linked genes are found on the sex X chromosome. X- ... Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective ... and are called the homogametic sex. Males have two distinct sex chromosomes (XY), and are called the heterogametic sex. Sex ... the sex of an individual is determined by a pair of sex chromosomes (gonosomes). Females have two of the same kind of sex ...
In males, the sex-determining region Y (SRY) gene on the Y chromosome suppresses Mullerian duct development, by initiating the ... Mullerian anomalies likely occur early in development, as the congenital disorder often occurs in association with renal and ... Development of the female reproductive tract begins at approximately week 8 of embryonic development, and development of the ... Females with MRHK syndrome have normal chromosome pattern of 46,XX karyotype, with normal functioning ovaries and secondary sex ...
XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46, ... DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein ... 1.1 of Stefan White & Andrew Sinclair: The Molecular Basis of Gonadal Development and Disorders of Sex Development, in: John M ... Disorders of Sex Development. An Integrated Approach to Management, Springer 2012, ISBN 978-3-642-22963-3, e-ISBN 978-3-642- ...
This is also known as ovotesticular disorder of sex development (DSD) or true hermaphroditism. Her biographer Max Dohle ... scan for a Y-chromosome or an SRY-gene on the Y-chromosome. All female athletes with a Y-chromosome were expelled from ... After her death a forensic test on body cells obtained from her clothing showed signs of a Y-chromosome in her DNA. She may ... Dillema had refused to go to a mandatory sex test for the European championships in Brussels in August 1950. Dillema was the ...
Sex Chromosome Disorders of Sex Development - 20 Studies Found. Status. Study Active, not recruiting. Study Name: Aneuploidies ... Y-chromosome Micro. Date: 2014-02-10. Interventions: *Drug: 13-cis retinoic acid Acc ... Condition: Male Sterility Due to Y-chromosome Deletions. Date: 2015-08-11. ... in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions. ...
Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. This includes patients with Turner ... Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in ... "Disorders of Sex Development". Organisation Intersex International Australia. "Why Not "Disorders of Sex Development"?". UK ... Beh H, Diamond M (2006). "Variations of Sex Development Instead of Disorders of Sex Development". Archives of Disease in ...
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true ... A 35-kilobase (kb) gene determinant located on the distal short arm of the Y chromosome, known as the SRY (sex determining ... Josso N, Audi L, Shaw G. Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex ... Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature ...
Hypogonadism Definition Hypogonadism is the condition in which the production of sex hormones and germ cells (sperm and eggs) ... If sex chromosomes are involved, there is a change in the development of sexual characteristics. Female is the default sex of ... XYY syndrome is a chromosome disorder that affects males. Males with this disorder have an extra Y chromosome. The error that ... Sex is determined at the moment of conception by sex chromosomes. Females have two X chromosomes, while males have one X and ...
Newborn Screening for Sex Chromosome Disorders SBC: JS GENETICS, LLC Topic: N/A ... However, due to the lack of rational and systematic approaches, the timelines and cost for strain development can be large and ... and the University of Kansas is focused on the development of high-load, oligomeric reagents and scavenging agents derived from ... or portions of an X-chromosome is deleted. Phenotypic features include primary hypogonadism, renal abnormalities, and profound ...
It is among the rarest of the sex chromosome disorders, which are conditions caused by changes in the number of sex chromosomes ... Dental abnormalities are also common in this disorder.. 49,XXXXY syndrome disrupts male sexual development. The penis is often ... 49,XXXXY syndrome is a sex chromosome. disorder in boys and men that results from having three extra X chromosomes in each cell ... People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX ...
A genetic disorder that causes abnormal development of many parts and systems of the body. ... A genetic condition in men in which an extra X sex chromosome is present. ... Hereditary hemorrhagic telangiectasia. A genetic disorder of the blood vessels in which there is a tendency to form blood ... Polycystic kidney disease (PCKD). A genetic disorder characterized by the growth of numerous cysts filled with fluid in the ...
... is a hereditary disorder affecting young girls and women, caused by a missing, partially missing, or modified X chromosome. ... Sex hormone replacement therapy may help the affected person attain physical development related to adolescence. Estrogen and ... Each cell in the human body has two sex chromosomes. Women have two X chromosomes and men have one X chromosome and one Y ... Mammals normally have two copies of the X chromosome in females and one in males, which is referred to as a sex chromosome. ...
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true ... A 35-kilobase (kb) gene determinant located on the distal short arm of the Y chromosome, known as the SRY (sex determining ... Josso N, Audi L, Shaw G. Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex ... Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature ...
... to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome ... Sex hormones can be replaced at puberty as they can stimulate the development of secondary sexual characteristics and improve ... Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated as X and Y. Males have one X ... The sex organs in affected individuals fail to produce sufficient sex hormones, which can result in underdeveloped sex organs, ...
Learn and reinforce your understanding of Disorders of sex chromosomes: Pathology review. ... Disorders of sex chromosomes: Pathology review Videos, Flashcards, High Yield Notes, & Practice Questions. ... Ovotesticular Disorder of Sex Development: An Unusual Presentation Journal of Clinical Imaging Science (2019) ... Now, individuals with sex chromosome disorders have aneuploidy, meaning that theres a missing or extra sex chromosome. Most ...
24 Genetic Disorders and Their Associated Mechanisms. 25 Chromosome Disorders and Inheritance Patterns. 26 Sex Chromosome ... 109 Integrative Medicine for Disorders of Development and Behavior. 110 Community-Based Interventions, 1050. 111 Endocrine and ... 56 Acute Stress Disorder and Posttraumatic Stress Disorder in Youth. 57 Adjustment and Adjustment Disorders in Developmental- ... 70 Sleep and Sleep Disorders In Children. 71 Movement Disorders. 72 Habit Disorders in Children and Adolescents. 73 Sexuality ...
Adiposity in infants, inpatient hypoglycemia prevention, complications of DKA, cardiometabolism in sex chromosome aneupliodies ... Current projects include development of novel bioassays for monitoring disease relevant T-cells in peripheral blood, and ... Gottlieb has worked in the fields of autoimmunity, type 1 diabetes, and other endocrine disorders (Addisons Disease and APS2) ... Sex difference, reproductive hormones, health. In her role as Chair of Psychiatry, Dr. Epperson is committed to the advancement ...
A new study led by an Iowa State University scientist sheds light on how organisms have evolved to address imbalances in sex ... The study found that both sexes of softshell turtles double the activity of the Zs in early embryonic development, which fixes ... physiological or other disorders. But SCDC mechanisms work to upregulate, or increase the level, of protein production from ... Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. In the case of the ...
... "medically verifiable disorder of sex development," or when a physician has diagnosed abnormal sex chromosome structure. The ... or giving cross-sex hormones to minors. ...
... some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. A genetic test is ... as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are ... Chromosomes can be one of two types: sex chromosomes or autosomes. Sex chromosomes are X and Y. Most men have an X and a Y, and ... Genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These ...
Learn and reinforce your understanding of Disorders of sex chromosomes: Pathology review. ... Disorders of sex chromosomes: Pathology review Videos, Flashcards, High Yield Notes, & Practice Questions. ... Ovotesticular Disorder of Sex Development: An Unusual Presentation Journal of Clinical Imaging Science (2019) ... Now, individuals with sex chromosome disorders have aneuploidy, meaning that theres a missing or extra sex chromosome. Most ...
In the absence of SRY, ovarian development occurs, associated with a female phenotype [1]. Disorders of Sex Development (DSD) ... the sex chromosome composition of monoecious hemp forms remains unknown. In this study, we examine the sex chromosome makeup in ... Sex expression is controlled by an X-to-autosome balance system consisting of the heteromorphic sex chromosomes XY for males ... In dioecious plants where sex chromosomes have not been identified, markers for maleness indicate either the presence of sex ...
... "sex chromosome DSD (disorder of sex development-the term replacing "intersex" within the medical community)." ... I think as sex workers and people in the sex trade we suffer from the imposition of utopian feminism that says sex industry ... This is something I thought of today: a text-based "bad date" blacklist for sex workers and people in the sex trade. I know ... Why Decriminalizing Sex Work is more than just Decriminalizing Sex Work: a manifesto ...
Beatriz Vicoso studies sex-chromosome biology and evolution. Males and females display profound differences in phenotype, ... Gaia Novarino analyzes genetic and molecular basis of neurodevelopmental disorders. Autism Spectrum Disorders (ASD) are a group ... Beatriz VicosoBernd BickelComputer ScienceGaia NovarinoGrantInstitute DevelopmentJan MaasLife SciencesMathematicsNeuroscience ... Sexually antagonistic conflict, resulting from traits and/or mutations that are beneficial to one sex but harmful to the other ...
Sex Chromosome Disorders of Sex Development 2 0 Gonadal Dysgenesis, 46,XY 2 0 ... Content source: Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics, National Center on ...
Previous studies found that the XIST gene is crucial for normal human development. Sex is determined by the combination of X ... disorders, such as Edward syndrome and Patau syndrome, caused by extra copies of chromosomes 18 and 13 respectively. ... TheXIST gene sits on the X chromosome, but is only active in women. When it switches on, it silences the second X chromosome. ... The work, the researchers write, "surmounts the major first step towards potential development of chromosome therapy". ...
a. External biological sex characteristics that are unresolvably ambiguous.. b. A disorder of sexual development in which the ... as indicated by the persons sex chromosomes, naturally occurring sex hormones, and internal and external genitalia present at ... or a disorder that has been caused or exacerbated by the performance of any sex-reassignment prescription or procedure, ... to affirm a persons perception of his or her sex if that perception is inconsistent with the persons sex as defined in ...
Chromosome Disorders [C16.131.260]. *Sex Chromosome Disorders [C16.131.260.830]. *Sex Chromosome Disorders of Sex Development [ ... Chromosome Disorders [C16.320.180]. *Sex Chromosome Disorders [C16.320.180.830]. *Sex Chromosome Disorders of Sex Development [ ... Gonadal Disorders [C19.391]. *Disorders of Sex Development [C19.391.119]. *Sex Chromosome Disorders of Sex Development [C19.391 ... Disorders of Sex Development [C13.351.875.253]. *Sex Chromosome Disorders of Sex Development [C13.351.875.253.795] ...
Wilson, A. C., & Bishop, D. V. M. (2018). Sex Chromosome Trisomies Are Not Associated with Atypical Lateralization for Language ... most investigators believe that severe speech disorders in children are the result of some causes during the development of the ... The younger she is, the more likely speech disorders are; and the higher education, the less likely speech disorders in the ... Table 6 and Table 7 show the results of regression analysis in the group of the children without any speech disorders. The ...
DSD/Intersex - Disorders/Differences in sexual development. About 1% of children are born with chromosomes, hormones, genitalia ... Biological/Anatomical Sex - The physical structure of ones genitalia used to assign sex at birth. In addition to these, ... Gender is often used synonymously, and incorrectly, with sex but this is inaccurate because sex refers to physical/biological ... biological sex includes chromosomes, hormones, and internal organs and other structures related to reproduction. given the ...
T13 Related Disorders and More) What is Trisomy? Genes are the blueprint for our - Trisomy 18, Trisomy 13 and Related Disorders ... Humans usually have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other ... The recent development and marketing of a non-invasive prenatal diagnostic test (NIPD) uses DNA testing with a single blood ... A chromosome disorder is caused by an alteration in the number or genetic structure of chromosomes. Trisomy (three bodies) ...
Sex Chromosome Disorders of Sex Development 1 0 Substance-Related Disorders 1 0 ... Content source: Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics, National Center on ...
... prevalence of many psychiatric disorders could potentially reflect sex chromosome dosage effects on brain development. To ... clarify how limbic anatomy varies across sex and sex chromosome complement, we characterized amygdala and hippocampus structure ... in a uniquely large sample of patients carrying supernumerary sex chromosomes (n = 132) and typically developing controls (n = ... 166). After adjustment for sex-differences in brain size, karyotypically normal males (XY) and females (XX) did not differ in ...
The study found that both sexes of softshell turtles double the activity of the Zs in early embryonic development, which fixes ... or other disorders. But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the ... Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. In the case of the ... sex chromosomes are referred to as X and Y. Typically, two X chromosomes result in a female while XY chromosomes result in ...
  • Hypogonadism is the condition in which the production of sex hormones and germ cells (sperm and eggs) is inadequate. (encyclopedia.com)
  • Along with producing eggs and sperm, they produce sex hormones that generate all the differences between men and women. (encyclopedia.com)
  • Hormones can be inadequate during or after each stage of development - embryonic and adolescent. (encyclopedia.com)
  • The organs affected principally by sex hormones are the male and female genitals, both internal and external, and the female breasts. (encyclopedia.com)
  • 8) "Sex" means the classification of a person as either male or female based on the organization of the human body of such person for a specific reproductive role, as indicated by the person's sex chromosomes, naturally occurring sex hormones, and internal and external genitalia present at birth. (fl.us)
  • 2. The prescription or administration of hormones or hormone antagonists to affirm a person's perception of his or her sex if that perception is inconsistent with the person's sex as defined in subsection (8). (fl.us)
  • Certain hormones also can affect the development of the sex organs. (chkd.org)
  • Sex hormones and genes on the sex chromosomes are not only key factors in the regulation of sexual differentiation and reproduction but they are also deeply involved in brain homeostasis. (mdpi.com)
  • 2. Instill or create physiological or anatomical characteristics that resemble a sex different from an individual's biological sex, including without limitation (i) medical services that provide puberty-blocking drugs, cross-sex hormones, or other mechanisms to promote the development of feminizing or masculinizing features in the opposite biological sex or (ii) genital or nongenital gender reassignment surgery performed for the purpose of assisting an individual with a gender transition. (legiscan.com)
  • Is it your sex hormones? (oiiinternational.com)
  • It doesn't create new chromosomes, sex hormones, or genitalia. (whatwouldyousay.org)
  • Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
  • Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
  • Boys and men with 49,XXXXY syndrome have extra copies of multiple genes on the X chromosome. (medlineplus.gov)
  • The activity of these extra genes affects many aspects of development, including sexual development before birth and at puberty. (medlineplus.gov)
  • PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
  • Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological or other disorders. (newswise.com)
  • But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (newswise.com)
  • Valenzuela and her co-authors sampled softshell turtles at various stages of development, including embryos, young hatchlings and adults, and analyzed various tissues to determine which genes were activated. (newswise.com)
  • The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (newswise.com)
  • The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. (healthywomen.org)
  • The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
  • In a healthy person, almost every cell in the body carries 23 pairs of chromosomes, which hold nearly all of the genes needed for human life. (oneofus.eu)
  • Genes are beaded along chromosomes, which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). (trisomy.org)
  • Instead, it's partially determined by some of the genes on those chromosomes. (thetech.org)
  • Lots of different genes are all part of determining a baby's biological sex. (thetech.org)
  • Autosomes can be described as the non-sex chromosomes that play diverse roles in the human body like harboring genes for the body's metabolism, functioning, and growth. (biologyonline.com)
  • Aberrations in autosomal genes can give rise to a wide range of genetic disorders. (biologyonline.com)
  • Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
  • In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
  • X-degenerate sequences are single copy and broadly expressed genes which were evolved from ancestral autosomes to generate sex chromosomes. (biomedcentral.com)
  • Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)
  • The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
  • Despite extensive studies on the effect of these genes on the development pathways, some MSY genes have remained as missing proteins with no experimental protein evidence due to highly transient and spatio-temporal restricted expression patterns. (biomedcentral.com)
  • A genetic disorder that causes abnormal development of many parts and systems of the body. (hopkinsmedicine.org)
  • If abnormal or missing pieces of one of the X chromosomes occurs, all cells have one complete and one altered copy of the X chromosome. (medicinenet.com)
  • The importance of maintaining a proper balance is made evident by diseases caused by abnormal numbers of sex chromosomes, including Klinefelter syndrome and Turner syndrome in humans, and Valenzuela said these processes have evolutionary and health implications in many other organisms as well. (newswise.com)
  • There are exceptions in the bill for treatments to correct a "medically verifiable disorder of sex development," or when a physician has diagnosed abnormal sex chromosome structure. (carolinajournal.com)
  • Identifying mismatched and abnormal chromosomes is vital, yes, but when does this turn into selection of a health male or female embryo over the other? (science20.com)
  • Abnormal number or structure of chromosomes. (edu.au)
  • Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. (wikipedia.org)
  • Now, individuals with sex chromosome disorders have aneuploidy , meaning that there's a missing or extra sex chromosome. (osmosis.org)
  • Sex chromosome aneuploidy (SCA) increases risk for several psychiatric disorders associated with the limbic system, including mood and autism spectrum disorders. (ox.ac.uk)
  • Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
  • In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
  • Overview of Sex Chromosome Abnormalities Sex chromosome abnormalities may involve aneuploidy, partial deletions or duplications of sex chromosomes, or mosaicism. (msdmanuals.com)
  • Dental abnormalities are also common in this disorder. (medlineplus.gov)
  • These abnormalities usually result from random (sporadic) errors in egg or sperm development but are sometimes inherited. (rarediseases.org)
  • Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. (healthywomen.org)
  • Overview of Chromosomal Abnormalities Chromosomal abnormalities cause various disorders. (msdmanuals.com)
  • Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect. (msdmanuals.com)
  • Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. (wikipedia.org)
  • Aromatase deficiency - A disorder which, in females, is characterized by androgen excess and estrogen deficiency, and can result in inappropriate virilization, though without pseudohermaphroditism (i.e., genitals are phenotypically appropriate) (with the exception of the possible incidence of clitoromegaly). (wikipedia.org)
  • Females have two X chromosomes, while males have one X and one Y chromosome . (encyclopedia.com)
  • In the case of the softshell turtles included in the study, the sex chromosomes are referred to as Z and W, and it's the females of the species who have mismatched, or ZW, chromosomes. (newswise.com)
  • The study found that both sexes of softshell turtles double the activity of the Zs in early embryonic development, which fixes the expression imbalance in ZW females (twice Z expression now matches autosomal expression). (newswise.com)
  • After adjustment for sex-differences in brain size, karyotypically normal males (XY) and females (XX) did not differ in volume or shape of either structure. (ox.ac.uk)
  • A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
  • Figure 1: A diagrammatic representation of a total of 46 chromosomes in human beings (females: 44+XX and males: 44+XY). (biologyonline.com)
  • Pentasomy X is a rare disorder of the sex chromosomes, which only affects females and is characterized by the presence of five chromosomes "x" (49,xxxxx) instead of two (46,xx). (bvsalud.org)
  • The exact frequency of Fragile X syndrome is unclear, but the CDC estimates that roughly 1.4 in 10,000 males and 0.9 in 10,000 females are affected by this disorder. (autism.org)
  • It only affects people with Y chromosomes, namely genetic males. (wikipedia.org)
  • For instance, in humans and many other species, sex chromosomes are referred to as X and Y. Typically, two X chromosomes result in a female while XY chromosomes result in males. (newswise.com)
  • In the USA, 1 in 500 to 1,000 males has an extra sex chromosome. (testocreams.com)
  • Testosterone is determined in men when reduced testosterone production is suspected, e.g. in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
  • Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. (healthywomen.org)
  • A chromosome therapy for humans would be fraught with practical and ethical difficulties. (oneofus.eu)
  • Humans usually have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors, such as growth and function. (trisomy.org)
  • Sir Peter Mansfield devised a way to harness cells' natural magnetic properties to produce images of soft tissues in humans, leading to the development of magnetic resonance imaging (MRI). (ukri.org)
  • Male humans make a lot more testosterone because it is important for early male development. (thetech.org)
  • So, we can't say that autosomes have no role in phenotypic sex determination in humans because they play an integral and indispensable role! (biologyonline.com)
  • In male humans, testosterone plays a key role in the development of male reproductive tissues, such as the testis and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of body hair. (cdc.gov)
  • A chromosome disorder is caused by an alteration in the number or genetic structure of chromosomes. (trisomy.org)
  • These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
  • An important point to note here is that certain autosomes do play a role in phenotypic sex determination! (biologyonline.com)
  • Human autosomes , the non-sex human chromosomes, are integral components of the human genome . (biologyonline.com)
  • The human genome is composed of 23 pairs of chromosomes, with autosomes (22 pairs) comprising the majority. (biologyonline.com)
  • This is why autosomes form the backbone of human genetics as they hold the key to our intricate biological processes and susceptibility to genetic disorders. (biologyonline.com)
  • Trisomy 18 syndrome (Edwards syndrome) is a disorder of human chromosomes which occurs in approximately 1 in 7,000 live born infants. (trisomy.org)
  • Trisomy 13 syndrome (Patau syndrome) is a disorder of human chromosomes which occurs in approximately 1 in 10,000-25,000 live-born infants. (trisomy.org)
  • The chromosome analysis determines whether there is a missing X chromosome or abnormality in any one of the X chromosomes. (medicinenet.com)
  • Turner Syndrome Turner syndrome is a sex chromosome abnormality in which girls are born with one of their two X chromosomes partially or completely missing. (merckmanuals.com)
  • The development mechanism of this genetic abnormality is related to the non-disjunction of the genetic material during meiosis, however its true incidence is still unknown 1-2 . (bvsalud.org)
  • Down's syndrome arises when cells have an extra copy of chromosome 21. (oneofus.eu)
  • An additional copy of chromosome 21, causes Down syndrome, which is the most common trisomy and the most common genetic disability. (sancotest.pl)
  • 49,XXXXY syndrome is sometimes described as a variant of another sex chromosome disorder called Klinefelter syndrome . (medlineplus.gov)
  • A matched pair of chromosomes results in one sex, while a mismatched pair results in another sex. (newswise.com)
  • Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. (wikipedia.org)
  • If sex chromosomes are involved, there is a change in the development of sexual characteristics. (encyclopedia.com)
  • External biological sex characteristics that are unresolvably ambiguous. (fl.us)
  • A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). (uchicago.edu)
  • Their action is crucial for the development of the brain, which presents different characteristics depending on the sex of individuals. (mdpi.com)
  • Five of CDC's ADDM Network sites (Arkansas, Georgia, Maryland, Utah, and Wisconsin) began monitoring autism spectrum disorder (ASD) in 2018 among 16-year-old adolescents who were initially identified as having characteristics of ASD in 2010. (cdc.gov)
  • Sex" refers to the biological or physical characteristics of a person. (thetech.org)
  • A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. (jax.org)
  • Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. (biomedcentral.com)
  • A baby born with ambiguous genitalia is not evidence of a new sex within the human species. (whatwouldyousay.org)
  • Most types of sex chromosome aneuploidies have a mild disease course, without intellectual development disorders, some of which may lead to infertility or learning problems. (sancotest.pl)
  • SB 14 prohibits puberty blockers, hormone therapy that induces transient or permanent infertility, sterilization surgeries, mastectomies, and the removal of any otherwise healthy or non-diseased body part or tissue for the purpose of transitioning a child's biological sex. (mwe.com)
  • In this review, we explore the role of biological sex in the development of the brain and analyze its impact on the predisposition toward and the progression of neurodegenerative diseases. (mdpi.com)
  • Sex" means the biological state of being female or male, based on sex organs, chromosomes, and endogenous hormone profiles. (legiscan.com)
  • Most of these "gender tests" you mention are actually looking at biological sex, not gender. (thetech.org)
  • Biological sex isn't really determined by chromosomes. (thetech.org)
  • Having qualities of both biological sexes is called intersexuality. (thetech.org)
  • Human intersex is an organic phenomenon resulting from an imbalance between the factors and events responsible for sexual determination and differentiation, which takes place when an individual's body presents ambiguities, anomalies or inconsistencies in the biological components of his or her sexual identity, i.e., in his or her sex chromosomal, hormonal and/or morphological sex 2 . (bvsalud.org)
  • The biological elements involve genetic, hormonal and morphological sex aspects from which result in a person's physical configuration. (bvsalud.org)
  • DSDs are medical conditions encompassing any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. (wikipedia.org)
  • Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
  • Those with this condition have male chromosomes, underdeveloped sex organs, internal female reproductive organs, and female external genitalia. (chkd.org)
  • Disorders of sexual development do not create a new chromosome, a new sex hormone, or a new type of genitalia. (whatwouldyousay.org)
  • out of which 22 pairs are autosomal, and 1 pair consists of sex choromosomes, which can be X or Y. Generally, an individual with two X chromosomes, or 46,XX is considered to be genetically female. (osmosis.org)
  • Most people have 23 pairs of chromosomes in the nucleus of each cell. (healthywomen.org)
  • Analysis can see which embryos have the normal 23 pairs of chromosomes, and identify ones that may have extra or less than enough sex chromosomes. (science20.com)
  • SANCO test detects trisomies and monosomies of all 23 chromosome pairs as well as deletion and duplication syndromes of at least 7 million base pairs. (sancotest.pl)
  • There are 46 chromosomes in the human genome what makes up 23 pairs. (sancotest.pl)
  • These chromosomes occur in pairs (22 pairs) and are 44 in number in human beings. (biologyonline.com)
  • These chromosomes exist in pairs in the somatic cells in contrast to their solo presence in germinal or sex cells , i.e. gametes . (biologyonline.com)
  • If they produce too little sex hormone, then either the growth of the sexual organs or their function is impaired. (encyclopedia.com)
  • They also direct the adolescent maturation of sex organs into their adult form. (encyclopedia.com)
  • Around the 6 th week of the unborn baby's development, a gene on the Y chromosome of a developing boy tells the fetal tissue that will form the sex organs to become the testes. (chkd.org)
  • Without the Y chromosome, the fetal tissue in a female baby that will form the sex organs becomes the ovaries, uterus, and fallopian tubes. (chkd.org)
  • But they have only one gender's internal sex organs. (chkd.org)
  • Male pseudohermaphrodite means the child has male internal sex organs. (chkd.org)
  • Female pseudohermaphrodite means the child has female internal sex organs. (chkd.org)
  • This enzyme is needed to help the male sex organs complete their development. (chkd.org)
  • Girl babies with this condition have male sex organs. (chkd.org)
  • The testes (testicles) are two almond-shaped male sex organs contained in a sac called the scrotum, which sits directly behind the penis. (testocreams.com)
  • The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. (medlineplus.gov)
  • What if the athlete has a Y chromosome, typical female levels of testosterone, and is female on the outside? (thetech.org)
  • Most of the circulating testosterone is bound to carrier proteins (sex hormone-binding globulin [SHBG], and albumin). (cdc.gov)
  • DSDs are divided into following categories, emphasizing the karyotype's role in diagnosis: 46,XX DSD: Genetic Female Sex Chromosomes. (wikipedia.org)
  • In some cases, a diagnosis is made during fetal development. (medicinenet.com)
  • This study examined the association between insurance status and community-based services received outside of school among preschool-aged children with a prior autism spectrum disorder (ASD) diagnosis. (cdc.gov)
  • Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
  • A genetic disorder of the blood vessels in which there is a tendency to form blood vessels that lack capillaries between an artery and vein. (hopkinsmedicine.org)
  • A genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. (hopkinsmedicine.org)
  • Often this requires input from a clinical geneticist or genetic counselor with experience in this genetic disorder to supply the most recent and accurate information about the disorder and discuss genetic testing options or treatment plans. (rarediseases.org)
  • Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. (healthywomen.org)
  • But others measure your risk of developing a disease, even if you are healthy now (presymptomatic testing), or determine whether you and your partner are at risk of having a child with a genetic disorder (carrier screening). (healthywomen.org)
  • Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
  • Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
  • The bill does not prohibit puberty suppressants or certain medically necessary procedures for the treatment of premature puberty, and it does not prohibit treatments to children who were born with a medically verifiable genetic disorder of sex development or to children who do not have male or female sex chromosome structures as determined through genetic testing by a physician. (mwe.com)
  • Fragile X syndrome (also known as Martin-Bell syndrome) is a sex-linked genetic disorder. (autism.org)
  • Ornithine transcarbamylase (OTC) deficiency is an X-linked genetic disorder of the urea cycle that leads to elevated levels of ammonia in the blood. (medscape.com)
  • During fetal development in boys, the testicles (testes) form in the abdomen and migrate into the scrotum (the sac of skin below the penis). (heainfo.org)
  • During each stage, inadequate hormone stimulation will prevent normal development. (encyclopedia.com)
  • Sex hormone replacement therapy may help the affected person attain physical development related to adolescence. (medicinenet.com)
  • Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. (rarediseases.org)
  • A disorder of sexual development in which the physician has determined through genetic or biochemical testing that the patient does not have a normal sex chromosome structure, sex steroid hormone production, or sex steroid hormone action for a male or female, as applicable. (fl.us)
  • Most often, doctors do not find a cause for growth hormone deficiency, but sometimes it is caused by a congenital disorder or brain tumor. (merckmanuals.com)
  • Sex hormone-binding globulin (SHBG) is the blood transport protein for androgens and estrogens. (cdc.gov)
  • Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
  • 1. The prescription or administration of puberty blockers for the purpose of attempting to stop or delay normal puberty in order to affirm a person's perception of his or her sex if that perception is inconsistent with the person's sex as defined in subsection (8). (fl.us)
  • 3. Any medical procedure, including a surgical procedure, to affirm a person's perception of his or her sex if that perception is inconsistent with the person's sex as defined in subsection (8). (fl.us)
  • 13-15 Determination of gender using a person's genetic, hormonal and morphologic sex may be impaired if there is no psychological identification with the gender into which a person is categorized (psychological gender), or depending on the social acceptance of this person toward one of the genders (social gender). (bvsalud.org)
  • In childhood, features of this disorder include short stature, small genitals and an excessive appetite. (rarediseases.org)
  • The morphological sex refers to the appearance of internal and external genitals, whereby the presence of primary and secondary sex features must be analyzed to check for correspondences between them. (bvsalud.org)
  • and XY, sex reversal. (wikipedia.org)
  • XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated SRY and the second with no SRY gene. (wikipedia.org)
  • XY, Sex reversal: patients with female phenotypes where duplication in the Xp21.2 region of the X chromosome that contains the NR0B1 (DAX1) gene is associated with XY sex reversal. (wikipedia.org)
  • Ovotesticular disorder: patients having both ovarian and testicular tissue. (wikipedia.org)
  • Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
  • Courtesy of Cureus [De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. (medscape.com)
  • Online at https://www.cureus.com/articles/70052-ovotesticular-disorder-of-sex-development-approach-and-management-of-an-index-case-in-the-dominican-republic]. (medscape.com)
  • Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)
  • Many patients with ovotesticular disorder of sexual development have a uterus. (medscape.com)
  • Lawrence's work shows that the gene can shut down other chromosomes too, a finding that paves the way for treating a range of other "trisomy" disorders, such as Edward syndrome and Patau syndrome , caused by extra copies of chromosomes 18 and 13 respectively. (oneofus.eu)
  • Trisomy ('three bodies') means the affected person has 47 chromosomes instead of 46. (trisomy.org)
  • Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities. (trisomy.org)
  • Trisomy refers to three copies of a chromosome instead of the normal two and in trisomy 18 there is a presence of an extra #18 chromosome. (trisomy.org)
  • Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. (trisomy.org)
  • Mosaicism, partial trisomy, translocations and other related chromosomal disorders are variable phenotypes of a full trisomy. (trisomy.org)
  • Trisomy is a medical term used when an additional chromosome in a cell occurs. (sancotest.pl)
  • Advanced maternal age increases risk of trisomy X, and the extra X chromosome is usually maternally derived. (msdmanuals.com)
  • DESCRIPTION (provided by applicant): Turner syndrome (TS) is the most common genetic problem effecting women, with an incidence of 1 in 1,500 to 2,000 live female births and occurs when an entire, or portions of an X-chromosome is deleted. (sbir.gov)
  • Absence of the X chromosome that occurs due to a defect in the father's sperm or in the mother's egg. (medicinenet.com)
  • Dandy-Walker malformation occurs as a disturbance in rhombencephalon development. (medscape.com)
  • Boys with genetic disorders affecting their sex chromosomes and testicles, like Klinefelter syndrome, are more likely to develop cancer. (testocreams.com)
  • The hormonal sex is determined through the gonads, testicles in men, and ovaries in women, as well as by other glands (pituitary and thyroid) responsible for male and female traits. (bvsalud.org)
  • People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. (medlineplus.gov)
  • To clarify how limbic anatomy varies across sex and sex chromosome complement, we characterized amygdala and hippocampus structure in a uniquely large sample of patients carrying supernumerary sex chromosomes (n = 132) and typically developing controls (n = 166). (ox.ac.uk)
  • Based on the updated classification and new nomenclature recommendations put forth by the 2006 International Intersex Consensus Conference1, the Disorders of Sex Development (previously Sex Differentiation Disorders) trees and descriptors were revised and updated. (bvsalud.org)
  • 1. The intersex condition is a disorder of sexual development, not a new gender. (whatwouldyousay.org)
  • Intersex is a condition affecting the growth and development of children. (bvsalud.org)
  • Androgens regulate the development of the embryo, determining whether it is a male or a female (male in the presence of androgens and female in the absence of androgens). (encyclopedia.com)
  • Female is the default sex of the embryo, so most of the sex organ deficits at birth occur in boys. (encyclopedia.com)
  • Valenzuela has studied temperature-dependent sex determination (TSD), or the way environmental temperatures influence whether a turtle embryo develops into a male or female in species that lack sex chromosomes, in previous research. (newswise.com)
  • But glitches in the early embryo can sometimes leave babies with too many chromosomes. (oneofus.eu)
  • The gender of a developing baby is determined at conception, when the embryo has either two XX chromosomes, or an X and a Y chromosome. (chkd.org)
  • Using Fluorsecent In Situ Hybridization, genetic screening can count chromosomes in a cell removed from an embryo in question. (science20.com)
  • After considering the symptoms, a blood test is done to analyze the child's chromosomes. (medicinenet.com)
  • The OAG qualified such treatment as child abuse on the basis that it causes "mental or emotional injury to a child that results in an observable and material impairment in the child's growth, development, or psychological functioning" under Texas Family Code § 261. (mwe.com)
  • It is the most common hormonal disorder among women of reproductive age, which can occur as young as 11 years old, and is the leading cause of infertility. (cdc.gov)
  • Additionally, the sex-biased prevalence of many psychiatric disorders could potentially reflect sex chromosome dosage effects on brain development. (ox.ac.uk)
  • Linking statewide health and education data is an effective way for states to have actionable local autism spectrum disorder (ASD) prevalence estimates when resources are limited. (cdc.gov)
  • This defect results in problems during fetal development and other developmental problems after birth. (medicinenet.com)
  • Trisomies of chromosomes with other numbers cause severe fetal malformations, leading in most cases to miscarriages in the first trimester of pregnancy. (sancotest.pl)
  • In addition, you perform a karyotype analysis on his cells and find 47 chromosomes, among which there's two X chromosomes and one Y chromosome. (osmosis.org)
  • A blood test shows low estrogen levels and high gonadotropins, and a karyotype analysis reveals only 45 chromosomes, with one X chromosome. (osmosis.org)
  • As doctors and researchers have learned more about the differences between these sex chromosome disorders, they have started to consider them as separate conditions. (medlineplus.gov)
  • For example, important differences between sexes were evidenced in respect of palisadic tissue, epidermal stomatic number, secretory hair distribution etc. (researchgate.net)
  • When we discuss the core concepts of Genetics , chromosomes are the first word that pops into our minds. (biologyonline.com)
  • Williams Syndrome (also known as Williams-Beuren syndrome) is a rare genetics disorder in which a portion of DNA material on chromosome 7 is missing. (autism.org)
  • Boys and men with 49,XXXXY syndrome have the usual single Y chromosome, but they have four copies of the X chromosome, for a total of 49 chromosomes in each cell. (medlineplus.gov)
  • The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (newswise.com)
  • By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
  • Recessive" means that two copies of the mutated gene (one from each parent) are required to cause the disorder. (genome.gov)
  • This eliminates disorders such as Klienfelter's Syndrome with an XXY, Turner's with only an X chromosome, or Down 's syndrome with three copies of chromosome 21. (science20.com)
  • Autosomal recessive disorders like cystic fibrosis or sickle cell anemia require both copies of an autosomal gene to be mutated for the disorder to manifest. (biologyonline.com)
  • However, only one X chromosome gets expressed and the other is inactivated through a process called X inactivation or lyonization, becoming a Barr body. (osmosis.org)
  • Our laboratory investigates X-chromosome Inactivation, and how this epigenetic process contributes to female-biased autoimmunity. (upenn.edu)
  • We are investigating how female lymphocytes maintain X-chromosome Inactivation, which is an epigenetic process responsible for equalizing gene expression between sexes. (upenn.edu)
  • X-chromosome Inactivation silences one X-chromosome in female cells, and this process is initiated and maintained by the long noncoding RNA Xist. (upenn.edu)
  • The study represents not only the first such study to analyze sex chromosome dosage compensation in turtles, but the findings also show that remarkably, temperature appears to affect the SCDC process in the turtles. (newswise.com)
  • SOX9 gene) of autosome 17 has an effect on how the gonads will develop, for instance, a dysfunctional SOX9 gene has been found to be associated with sex reversals. (biologyonline.com)
  • 46,XY DSD: Genetic Male Sex Chromosomes. (wikipedia.org)
  • if the sperm with the Y chromosome fertilizes an egg, the baby will be male. (encyclopedia.com)
  • 49,XXXXY syndrome disrupts male sexual development. (medlineplus.gov)
  • Like 49,XXXXY syndrome, Klinefelter syndrome affects male sexual development and can be associated with learning disabilities and problems with speech and language development. (medlineplus.gov)
  • On the other hand, an individual with one X and one Y chromosome, or 46,XY is genetically male. (osmosis.org)
  • That mismatch means they lack a second copy of the Z chromosome, unlike their male counterparts who have two Z chromosomes. (newswise.com)
  • Because the species with male individuals and female individuals have evolved repeatedly from hermaphroditic progenitors, the mechanisms for the control of sex determination in flowering plants are extremely diverse. (researchgate.net)
  • Thus, the hemp is included, according to some authors, in the category of plants with male heterogamy, whereas the others sustain the idea of a complex sex determinism, seen as resultant of interaction between individual hereditary potencies and the environmental factors. (researchgate.net)
  • In breeding activity, the early establishment of the sex would be necessary, imposed by the necessity to remove, from agronomic reasons, the male plants or the high masculinized monoecious plants. (researchgate.net)
  • There is more to being a male than having an X and a Y chromosome, and more to being a female than having two X's. (thetech.org)
  • And someone with an X and a Y chromosome is usually biologically male with a male gender identity. (thetech.org)
  • Does that mean they represent a sex or gender other than male and female? (whatwouldyousay.org)
  • These disorders do not replace the need for male or female nor do they offer a different way to reproduce. (whatwouldyousay.org)
  • The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)
  • About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)
  • In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
  • The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
  • There are a number of causes of hypogonadism, including stress, elevated prolactin levels, and several genetic disorders. (encyclopedia.com)
  • Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (newswise.com)
  • Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. (autism.org)
  • Families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder. (autism.org)
  • Initially, these individuals have a healthy, problem-free development with normal speech and vocabulary. (autism.org)
  • Autism Spectrum Disorders (ASD) are a group of neurological conditions characterized by stereotypical or repetitive behaviors as well as impairments in social interaction and communication skills, often of genetic basis. (ist.ac.at)
  • In all documented biopsied cases, there is a significant decline in germ cell development and an increase in tubular sclerosis by puberty. (medscape.com)
  • After birth, sexual development does not occur until puberty. (encyclopedia.com)
  • Such disorders are called autosomal recessive. (healthywomen.org)
  • Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
  • When it switches on, it silences the second X chromosome. (oneofus.eu)
  • Someone with two X chromosomes is usually biologically female with a female gender identity. (thetech.org)
  • The next part of the sex test will probably be to check to see whether the runner has female parts on the outside AND the inside. (thetech.org)
  • An error may occur in cell division during the early phases of a fetus' development. (medicinenet.com)
  • Most often, this results from nondisjunction, which can occur in the egg or sperm cell during meiosis 1 or 2, where a chromosome pair or sister chromatid respectively doesn't split apart. (osmosis.org)
  • disorder in boys and men that results from having three extra X chromosomes in each cell. (medlineplus.gov)
  • Boys and men with Klinefelter syndrome have one extra copy of the X chromosome, for a total of 47 chromosomes in each cell ( 47,XXY ). (medlineplus.gov)
  • A genetic condition in men in which an extra X sex chromosome is present. (hopkinsmedicine.org)
  • Extra or missing pieces of chromosomes can have a significant impact on the health of an individual. (healthywomen.org)
  • Lawrence's team used "genome editing", a procedure that allows DNA to be cut and pasted, to drop a gene called XIST into the extra chromosome in cells taken from people with Down's syndrome. (oneofus.eu)
  • Once in place, the gene caused a buildup of a version of a molecule called RNA, which coated the extra chromosome and ultimately shut it down. (oneofus.eu)
  • Writing in the journal Nature , the team describes how cells corrected for an extra chromosome 21 grew better, and developed more swiftly into early-stage brain cells. (oneofus.eu)
  • One question is, if we could turn off the extra chromosome in adults, would that stop or ameliorate their dementia? (oneofus.eu)
  • Another approach would cut the risk of leukaemia by silencing the extra chromosome in bone marrow cells. (oneofus.eu)
  • The US team has already begun work that aims to prevent Down's syndrome in mice, by silencing the extra chromosome 21 in early-stage embryos. (oneofus.eu)
  • Some are born with extra chromosomes while others are born with missing chromosomes. (whatwouldyousay.org)
  • This clinical state is characterized by elevated basal serum FSH levels in association with disordered menstrual cycles as demonstrated by oligomenorrhea, polymenorrhea, or metrorrhagia. (medscape.com)
  • The sex is principally determined by genotype in all species, but the mechanisms range from a single controlling locus to sex chromosomes bearing several linked loci required for sex determination. (researchgate.net)
  • Studying autosomal genetic disorders provides valuable insights into disease mechanisms and paves the way for targeted therapies and genetic counseling for the human creed. (biologyonline.com)
  • This can happen as a result of scarring inside the penis from injury or infection or scarring as a result of previous genital surgery, or from cells that bunch up in one section of the penis as a result of a disorder of sex development. (heainfo.org)
  • The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)
  • What is sex chromosome dosage compensation? (newswise.com)
  • But the researchers say their findings shed light on the evolutionary role of sex chromosome dosage compensation in many species. (scitechdaily.com)
  • The aim of this study was to report the dental care given to an adolescent with pentasomy of the X chromosome. (bvsalud.org)
  • This leads to the severe neurological disorders. (sancotest.pl)
  • The genetic imbalance in early embryonic life may cause anomalous development. (msdmanuals.com)
  • Refers to people whose gender identity aligns with their sex assigned at birth. (nlgja.org)
  • Abbreviation for down low , which refers to men who secretly have sex with men. (nlgja.org)
  • A connective tissue disorder (less common). (hopkinsmedicine.org)
  • Osteochondrodysplasias Osteochondrodysplasias are a group of rare hereditary disorders of connective tissue, bone, or cartilage that cause the skeleton to develop abnormally. (merckmanuals.com)