The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
Actual loss of portion of a chromosome.
Tumors or cancer of the UVEA.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
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 specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi).
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
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).
Aberrant chromosomes with no ends, i.e., circular.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A variation from the normal set of chromosomes characteristic of a species.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

Preimplantation genetic diagnosis of aneuploidy: were we looking at the wrong chromosomes? (1/230)

PURPOSE: Our purpose was to study aneuploidy frequencies of chromosomes 1, 4, 6, 7, 14, 15, 17, 18, and 22 in cleavage-stage embryos. These frequencies were compared to spontaneous abortion data to determine differences in survival rate of their aneuploidies. METHODS: One hundred ninety-four embryos were analyzed with multicolor fluorescence in situ hybridization. Embryos were divided into three maternal age groups: 20 to 34.9 years, (2) 35 to 39.9 years, and (3) 40 years and older. Embryos were also divided into two developmental and morphological groups; arrested and nonarrested embryos. RESULTS: The rate of aneuploidy was 14.51%, 14.10%, and 31.48% for age groups 1, 2, and 3, respectively (P < 0.005). The chromosomes most frequently involved in aneuploidy events were 22, 15, 1, and 17. CONCLUSIONS: The chromosomes most involved in spontaneous abortions are not necessarily the ones causing a decrease in implantation rates with maternal age. Other aneuploidies, such as for chromosomes 1 and 17, may seldom implant or die shortly after implantation.  (+info)

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. (2/230)

Recently much attention has been given to the detection of submicroscopic chromosome rearrangements in patients with idiopathic mental retardation. We have screened 27 subjects with mental retardation and dysmorphic features for such rearrangements using a genetic marker panel screening. The screening was a pilot project using markers from the subtelomeric regions of all 41 chromosome arms. The markers were informative for monosomy in both parents at 3661902 loci (40.6%, 95% confidence interval 37.0-44.2%) in the 22 families where DNA was available from both parents. In two of the 27 subjects, submicroscopic chromosomal aberrations were detected. The first patient had a 5-6 Mb deletion of chromosome 18q and the second patient had a 4 Mb deletion of chromosome 1p. The identification of two deletions in 27 cases gave an aberration frequency of 7.5% without adjustment for marker informativeness (95% confidence interval 1-24%) and an estimated frequency of 18% if marker informativeness for monosomy was taken into account. This frequency is higher than previous estimates of the number of subtelomeric chromosome abnormalities in children with idiopathic mental retardation (5-10%) although the confidence interval is overlapping. Our study suggests that in spite of the low informativeness of this pilot screening, submicroscopic chromosome aberrations may be a common cause of dysmorphic features and mental retardation.  (+info)

The chromosome 10 monosomy common in human melanomas results from loss of two separate tumor suppressor loci. (3/230)

Alteration of chromosome 10 is common in human melanomas and usually entails the loss of an entire chromosome homologue. Although the reasons for monosomy in cancer has remained obscure, one possibility is that multiple tumor suppressor genes residing on this chromosome must be lost in unison during tumor progression, and this is easier to accomplish by chromosome segregation rather than by multiple mutational and/or deletion events. The localization and identification of these genes has been hampered by the monosomy itself, which has resulted in a paucity of small defining deletions in tumors. Here, we have addressed the issue of monosomy in tumor development by using functional complementation mapping to localize and demonstrate the existence of different melanoma suppressor genes on chromosome 10 and assigned each locus a distinct tumorigenic phenotype. We report that a locus on 10q distal to 10q23.1, likely involving the PTEN tumor suppressor, causes a severe reduction in the kinetics of melanoma tumor formation in animals. In contrast, a previously unrecognized region at 10p15.3 has a distinct, but lesser, effect on in vivo melanoma growth. Thus, the loss of both of these regions, which is accomplished by tumor-associated monosomy, provides a significant growth advantage over the individual loss of either region, thereby explaining the monosomy observed in sporadic melanomas.  (+info)

CD34(+) acute myeloid and lymphoid leukemic blasts can be induced to differentiate into dendritic cells. (4/230)

CD34(+) hematopoietic stem cells from normal individuals and from patients with chronic myelogenous leukemia can be induced to differentiate into dendritic cells (DC). The aim of the current study was to determine whether acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) cells could be induced to differentiate into DC. CD34(+) AML-M2 cells with chromosome 7 monosomy were cultured in the presence of granulocyte-macrophage colony-stimulating factor (GM-CSF), tumor necrosis factor alpha (TNFalpha), and interleukin-4 (IL-4). After 3 weeks of culture, 35% of the AML-M2 cells showed DC morphology and phenotype. The DC phenotype was defined as upmodulation of the costimulatory molecules CD80 and CD86 and the expression of CD1a or CD83. The leukemic nature of the DC was validated by detection of chromosome 7 monosomy in sorted DC populations by fluorescence in situ hybridization (FISH). CD34(+) leukemic cells from 2 B-ALL patients with the Philadelphia chromosome were similarly cultured, but in the presence of CD40-ligand and IL-4. After 4 days of culture, more than 58% of the ALL cells showed DC morphology and phenotype. The leukemic nature of the DC was validated by detection of the bcr-abl fusion gene in sorted DC populations by FISH. In functional studies, the leukemic DC were highly superior to the parental leukemic blasts for inducing allogeneic T-cell responses. Thus, CD34(+) AML and ALL cells can be induced to differentiate into leukemic DC with morphologic, phenotypic, and functional similarities to normal DC.  (+info)

14q32 translocations and monosomy 13 observed in monoclonal gammopathy of undetermined significance delineate a multistep process for the oncogenesis of multiple myeloma. Intergroupe Francophone du Myelome. (5/230)

Clonal plasma cells in monoclonal gammopathy of undetermined significance (MGUS) have been shown to bear copy number chromosome changes. To extend our knowledge of MGUS to structural chromosomal abnormalities, we have performed fluorescence in situ hybridization experiments with probes directed to the 14q32 and 13q14 chromosomal regions in 100 patients with either MGUS or smoldering multiple myeloma (SMM). 14q32 abnormalities were observed in at least 46% of patients with MGUS/SMM, with these abnormalities being present in the majority of clonal plasma cells. Whereas t(11;14)(q13;q32) occurs in 15% of MGUS/SMM patients, an incidence similar to that of overt multiple myeloma (MM) patients, translocation t(4;14)(p16;q32) is observed in only 2% of these cases [P = 0.002 for difference with t(11;14)], as compared with 12% in MM patients (P = 0.013). Monoallelic deletions of the 13q14 region were found in 21% of patients, with two types of situations. In half of the evaluable patients, and especially in patients with SMM, the deletion is present in the majority of clonal plasma cells, as in MM, whereas in the other half of the evaluable patients (essentially in MGUS patients), it is observed in subclones only. These data enable us to elaborate a plasma cell oncogenesis model from MGUS to MM.  (+info)

Analysis of myelodysplastic syndrome clones arising after multiple myeloma: a case study by correlative interphase cytogenetic analysis. (6/230)

BACKGROUND: A patient with multiple myeloma developed myelodysplastic syndrome (MDS). Chromosomal analysis performed after the development of MDS revealed monosomy of chromosome 9 in all the meta-phases. We wished to identify the extent of the clone with the chromosomal abnormality originating from MDS clone. METHODS: A correlative interphase study by fluorescence in situ hybridization (FISH) was performed and we determined whether each lineage of cells obtained the molecular mark. The chromosome 9 classic alpha satellite region DNA was used as a probe for the FISH analysis in smear specimens stained with Wright-Giemsa stain. RESULTS: Erythroblasts, granulocytes and myelocytes had only one signal, whereas myeloma cells showed two to four signals. CONCLUSION: This study visualized the spectrum of MDS clone. The results suggest that the origin of MDS is different from that of multiple myeloma, at least in this case.  (+info)

Monosomy 13 is associated with the transition of monoclonal gammopathy of undetermined significance to multiple myeloma. Intergroupe Francophone du Myelome. (7/230)

Chromosomal abnormalities are present in most (if not all) patients with multiple myeloma (MM) and primary plasma cell leukemia (PCL). Furthermore, recent data have shown that numerical chromosomal changes are present in most individuals with monoclonal gammopathy of undetermined significance (MGUS). Epidemiological studies have shown that up to one third of MM may emerge from pre-existing MGUS. To clarify further possible stepwise chromosomal aberrations on a pathway between MGUS and MM, we have analyzed 158 patients with either MM or primary PCL and 19 individuals with MGUS using fluorescence in situ hybridization (FISH). Our FISH analyses were designed to detect illegitimate IGH rearrangements at 14q32 or monosomy 13. Whereas translocations involving the 14q32 region were observed with a similar incidence (60%) in both conditions, a significant difference was found in the incidence of monosomy 13 in MGUS versus MM or primary PCL. It was present in 40% of MM/PCL patients, but in only 4 of 19 MGUS individuals. Moreover, whereas monosomy 13 was found in the majority of plasma cells in MM, it was observed only in cell subpopulations in MGUS. It is noteworthy that, in a group of 20 patients with MM and a previous MGUS history, incidence of monosomy 13 was 70% versus 31% in MM patients without a known history of MGUS (P =.002). Thus, this study highlights monosomy 13 as correlated with the transformation of MGUS to overt MM and may define 2 groups of MM with possible different natural history and outcome, ie, post-MGUS MM with a very high incidence of monosomy 13 and de novo MM in which other genetic events might be involved. Serial analyses of individuals with MGUS will be needed to validate this model.  (+info)

Paternal sex chromosome aneuploidy as a possible origin of Turner syndrome in monozygotic twins: case report. (8/230)

The meiotic or mitotic origin of most cases of Turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for Turner syndrome of paternal origin. The paternal origin of the single X chromosome was determined by polymerase chain reaction (PCR) amplification. No mosaicism was detected for the X or Y chromosome. In this case, a meiotic error during gametogenesis would be a likely origin of X monosomy. To determine if meiotic errors are more frequent in the father of these monozygotic twins concordant for Turner syndrome of paternal origin, molecular studies in spermatozoa were conducted to analyse sex chromosome numerical abnormalities. A total of 12520 sperm nuclei from the twins' father and 85338 sperm nuclei from eight normal donors were analysed using three-colour fluorescent in-situ hybridization. There were significant differences between the twins' father and control donors for XY disomy (0.22 versus 0.11%, P < 0.001) and total sex chromosome disomy (0.38 versus 0.21%, P < 0.001). These results could indicate an increased tendency to meiotic sex chromosome non-disjunction in the father of the Turner twins.  (+info)

Monosomy is a type of chromosomal abnormality in which there is only one copy of a particular chromosome instead of the usual pair in a diploid cell. In monosomy, an individual has one less chromosome than the normal diploid number (46 chromosomes) due to the absence of one member of a chromosome pair. This condition arises from the loss of one chromosome in an egg or sperm during gamete formation or at conception.

Examples of monosomy include Turner syndrome, which is characterized by the presence of only one X chromosome (45,X), and Cri du Chat syndrome, which results from a deletion of a portion of the short arm of chromosome 5 (46,del(5)(p15.2)). Monosomy can lead to developmental abnormalities, physical defects, intellectual disabilities, and various health issues depending on the chromosome involved.

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.

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.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

Human chromosome pair 3 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. Chromosomes are made up of DNA, which contains the instructions for the development and function of all living organisms.

Human chromosomes are numbered from 1 to 22, with an additional two sex chromosomes (X and Y) that determine biological sex. Chromosome pair 3 is one of the autosomal pairs, meaning it contains genes that are not related to sex determination. Each member of chromosome pair 3 is identical in size and shape and contains a single long DNA molecule that is coiled tightly around histone proteins to form a compact structure.

Chromosome pair 3 is associated with several genetic disorders, including Waardenburg syndrome, which affects pigmentation and hearing; Marfan syndrome, which affects the connective tissue; and some forms of retinoblastoma, a rare eye cancer that typically affects young children.

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.

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.

Uveal neoplasms refer to tumors that originate in the uveal tract, which is the middle layer of the eye. The uveal tract includes the iris (the colored part of the eye), ciliary body (structures behind the iris that help focus light), and choroid (a layer of blood vessels that provides nutrients to the retina). Uveal neoplasms can be benign or malignant, with malignant uveal melanoma being the most common primary intraocular cancer in adults. These tumors can cause various symptoms, such as visual disturbances, eye pain, or floaters, and may require treatment to preserve vision and prevent metastasis.

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.

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.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

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.

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.

Choroid neoplasms are abnormal growths that develop in the choroid, a layer of blood vessels that lies between the retina and the sclera (the white of the eye). These growths can be benign or malignant (cancerous). Benign choroid neoplasms include choroidal hemangiomas and choroidal osteomas. Malignant choroid neoplasms are typically choroidal melanomas, which are the most common primary eye tumors in adults. Other types of malignant choroid neoplasms include metastatic tumors that have spread to the eye from other parts of the body. Symptoms of choroid neoplasms can vary depending on the size and location of the growth, but may include blurred vision, floaters, or a dark spot in the visual field. Treatment options depend on the type, size, and location of the tumor, as well as the patient's overall health and personal preferences.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Translocation, genetic, refers to a type of chromosomal abnormality in which a segment of a chromosome is transferred from one chromosome to another, resulting in an altered genome. This can occur between two non-homologous chromosomes (non-reciprocal translocation) or between two homologous chromosomes (reciprocal translocation). Genetic translocations can lead to various clinical consequences, depending on the genes involved and the location of the translocation. Some translocations may result in no apparent effects, while others can cause developmental abnormalities, cancer, or other genetic disorders. In some cases, translocations can also increase the risk of having offspring with genetic conditions.

Chromosomes are thread-like structures located in the nucleus of cells that contain most of the DNA present in cells. They come in pairs, with one set inherited from each parent. In humans, there are typically 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosomes 16-18 refer to the specific chromosomes that make up the 16th and 17th pairs in human cells. Chromosome 16 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the middle of the chromosome. It contains around 115 million base pairs of DNA and encodes approximately 1,100 genes.

Chromosome 17 is a metacentric chromosome, meaning it has a centromere located in the middle, dividing the chromosome into two arms of equal length. It contains around 81 million base pairs of DNA and encodes approximately 1,300 genes.

Chromosome 18 is a small acrocentric chromosome with a short arm (p arm) and a long arm (q arm), with the centromere located near the end of the short arm. It contains around 76 million base pairs of DNA and encodes approximately 1,200 genes.

Abnormalities in these chromosomes can lead to various genetic disorders, such as Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and some forms of Down syndrome (translocation between chromosomes 14 and 21).

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.

A ring chromosome is a structurally abnormal chromosome that has formed a circle or ring shape. This occurs when both ends of the chromosome break off and the resulting fragments join together to form a circular structure. Ring chromosomes can vary in size, and the loss of genetic material during the formation of the ring can lead to genetic disorders and developmental delays. The effects of a ring chromosome depend on the location of the breakpoints and the amount of genetic material lost. Some individuals with ring chromosomes may have mild symptoms, while others may have severe disabilities or health problems.

Human chromosomes are thread-like structures that contain genetic material, composed of DNA and proteins, present in the nucleus of human cells. Each chromosome is a single, long DNA molecule that carries hundreds to thousands of genes.

Chromosomes 21, 22, and Y are three of the 23 pairs of human chromosomes. Here's what you need to know about each:

* Chromosome 21 is the smallest human autosomal chromosome, with a total length of about 47 million base pairs. It contains an estimated 200-300 genes and is associated with several genetic disorders, most notably Down syndrome, which occurs when there is an extra copy of this chromosome (trisomy 21).
* Chromosome 22 is the second smallest human autosomal chromosome, with a total length of about 50 million base pairs. It contains an estimated 500-600 genes and is associated with several genetic disorders, including DiGeorge syndrome and cat-eye syndrome.
* The Y chromosome is one of the two sex chromosomes (the other being the X chromosome) and is found only in males. It is much smaller than the X chromosome, with a total length of about 59 million base pairs and an estimated 70-200 genes. The Y chromosome determines maleness by carrying the gene for the testis-determining factor (TDF), which triggers male development in the embryo.

It's worth noting that while we have a standard set of 23 pairs of chromosomes, there can be variations and abnormalities in the number or structure of these chromosomes that can lead to genetic disorders.

Chromosomes are thread-like structures that contain genetic material, made up of DNA and proteins, in the nucleus of cells. In humans, there are typically 46 chromosomes arranged in 23 pairs, with one member of each pair coming from each parent. The six pairs of chromosomes numbered 6 through 12, along with the X chromosome, are part of these 23 pairs and are referred to as autosomal chromosomes and a sex chromosome.

Human chromosome 6 is one of the autosomal chromosomes and contains an estimated 170 million base pairs and around 1,500 genes. It plays a role in several important functions, including immune response, cell signaling, and nervous system function.

Human chromosome 7 is another autosomal chromosome that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 is best known for containing the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, whose mutations can lead to cystic fibrosis.

Human chromosome 8 is an autosomal chromosome that contains around 146 million base pairs and approximately 900 genes. Chromosome 8 has been associated with several genetic disorders, including Smith-Magenis syndrome and 8p deletion syndrome.

Human chromosome 9 is an autosomal chromosome that contains around 139 million base pairs and approximately 950 genes. Chromosome 9 has been linked to several genetic disorders, including Hereditary Spherocytosis and CHARGE syndrome.

Human chromosome 10 is an autosomal chromosome that contains around 135 million base pairs and approximately 800 genes. Chromosome 10 has been associated with several genetic disorders, including Dyschondrosteosis and Melanoma.

Human chromosome 11 is an autosomal chromosome that contains around 135 million base pairs and approximately 800 genes. Chromosome 11 has been linked to several genetic disorders, including Wilms tumor and Beckwith-Wiedemann syndrome.

Human chromosome 12 is an autosomal chromosome that contains around 133 million base pairs and approximately 750 genes. Chromosome 12 has been associated with several genetic disorders, including Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

The X chromosome is one of the two sex chromosomes in humans. Females have two X chromosomes, while males have one X and one Y chromosome. The X chromosome contains around 155 million base pairs and approximately 1,000 genes. It has been linked to several genetic disorders, including Duchenne muscular dystrophy and Fragile X syndrome.

The Y chromosome is the other sex chromosome in humans. Males have one X and one Y chromosome, while females have two X chromosomes. The Y chromosome contains around 59 million base pairs and approximately 70 genes. It is primarily responsible for male sexual development and fertility.

In summary, the human genome consists of 23 pairs of chromosomes, including 22 autosomal pairs and one sex chromosome pair (XX in females and XY in males). The total length of the human genome is approximately 3 billion base pairs, and it contains around 20,000-25,000 protein-coding genes. Chromosomes are made up of DNA and proteins called histones, which help to package the DNA into a compact structure. The chromosomes contain genetic information that is passed down from parents to their offspring through reproduction.

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.

An abnormal karyotype refers to an abnormal number or structure of chromosomes in a person's cells. A karyotype is a visual representation of a person's chromosomes, arranged in pairs according to their size, shape, and banding pattern. In a normal karyotype, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

An abnormal karyotype can result from an extra chromosome (as in trisomy 21 or Down syndrome), missing chromosomes (as in monosomy X or Turner syndrome), rearrangements of chromosome parts (translocations, deletions, duplications), or mosaicism (a mixture of cells with different karyotypes).

Abnormal karyotypes can be associated with various genetic disorders, developmental abnormalities, intellectual disabilities, and increased risks for certain medical conditions. They are typically detected through a procedure called chromosome analysis or karyotyping, which involves staining and visualizing the chromosomes under a microscope.

Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.

The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.

The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.

Human chromosome pair 8 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure known as a chromatin.

Human cells have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 8 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 8 has a similar size, shape, and banding pattern, and they are identical in males and females.

Chromosome pair 8 contains several genes that are essential for various cellular functions and human development. Some of the genes located on chromosome pair 8 include those involved in the regulation of metabolism, nerve function, immune response, and cell growth and division.

Abnormalities in chromosome pair 8 can lead to genetic disorders such as Wolf-Hirschhorn syndrome, which is caused by a partial deletion of the short arm of chromosome 4, or partial trisomy 8, which results from an extra copy of all or part of chromosome 8. Both of these conditions are associated with developmental delays, intellectual disability, and various physical abnormalities.

Human chromosome pair 10 refers to a group of genetic materials that are present in every cell of the human body. Chromosomes are thread-like structures that carry our genes and are located in the nucleus of most cells. They come in pairs, with one set inherited from each parent.

Chromosome pair 10 is one of the 22 autosomal chromosome pairs, meaning they contain genes that are not related to sex determination. Each member of chromosome pair 10 is a single, long DNA molecule that contains thousands of genes and other genetic material.

Chromosome pair 10 is responsible for carrying genetic information that influences various traits and functions in the human body. Some of the genes located on chromosome pair 10 are associated with certain medical conditions, such as hereditary breast and ovarian cancer syndrome, neurofibromatosis type 1, and Waardenburg syndrome type 2A.

It's important to note that while chromosomes carry genetic information, not all variations in the DNA sequence will result in a change in phenotype or function. Some variations may have no effect at all, while others may lead to changes in how proteins are made and function, potentially leading to disease or other health issues.

Human chromosome pair 22 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosome pair 22 is one of the 22 autosomal pairs of human chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome 22 is the second smallest human chromosome, with each arm of the chromosome designated as p and q. The short arm is labeled "p," and the long arm is labeled "q."

Chromosome 22 contains several genes that are associated with various genetic disorders, including DiGeorge syndrome, velocardiofacial syndrome, and cat-eye syndrome, which result from deletions or duplications of specific regions on the chromosome. Additionally, chromosome 22 is the location of the NRXN1 gene, which has been associated with an increased risk for autism spectrum disorder (ASD) and schizophrenia when deleted or disrupted.

Understanding the genetic makeup of human chromosome pair 22 can provide valuable insights into human genetics, evolution, and disease susceptibility, as well as inform medical diagnoses, treatments, and research.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).

Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).

Cytogenetic analysis is a laboratory technique used to identify and study the structure and function of chromosomes, which are the structures in the cell that contain genetic material. This type of analysis involves examining the number, size, shape, and banding pattern of chromosomes in cells, typically during metaphase when they are at their most condensed state.

There are several methods used for cytogenetic analysis, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). Karyotyping involves staining the chromosomes with a dye to visualize their banding patterns and then arranging them in pairs based on their size and shape. FISH uses fluorescent probes to label specific DNA sequences, allowing for the detection of genetic abnormalities such as deletions, duplications, or translocations. CGH compares the DNA content of two samples to identify differences in copy number, which can be used to detect chromosomal imbalances.

Cytogenetic analysis is an important tool in medical genetics and is used for a variety of purposes, including prenatal diagnosis, cancer diagnosis and monitoring, and the identification of genetic disorders.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Human chromosomes 13-15 are part of a set of 23 pairs of chromosomes found in the cells of the human body. Chromosomes are thread-like structures that contain genetic material, or DNA, that is inherited from each parent. They are responsible for the development and function of all the body's organs and systems.

Chromosome 13 is a medium-sized chromosome and contains an estimated 114 million base pairs of DNA. It is associated with several genetic disorders, including cri du chat syndrome, which is caused by a deletion on the short arm of the chromosome. Chromosome 13 also contains several important genes, such as those involved in the production of enzymes and proteins that help regulate growth and development.

Chromosome 14 is a medium-sized chromosome and contains an estimated 107 million base pairs of DNA. It is known to contain many genes that are important for the normal functioning of the brain and nervous system, as well as genes involved in the production of immune system proteins. Chromosome 14 is also associated with a number of genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion on the short arm of the chromosome.

Chromosome 15 is a medium-sized chromosome and contains an estimated 102 million base pairs of DNA. It is associated with several genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by abnormalities in the expression of genes on the chromosome. Chromosome 15 also contains important genes involved in the regulation of growth and development, as well as genes that play a role in the production of neurotransmitters, the chemical messengers of the brain.

It is worth noting that while chromosomes 13-15 are important for normal human development and function, abnormalities in these chromosomes can lead to a variety of genetic disorders and developmental issues.

Human chromosomes are the thread-like structures located in the nucleus of human cells, which carry genetic information in the form of DNA. Humans have a total of 46 chromosomes arranged in 23 pairs. The first 22 pairs are called autosomes, and the last pair are the sex chromosomes, X and Y.

Chromosomes 1-3 are the largest human chromosomes, and they contain a significant portion of the human genome. Here is a brief overview of each:

1. Chromosome 1: This is the largest human chromosome, spanning about 8% of the human genome. It contains approximately 2,800 genes that are responsible for various functions such as cell growth and division, nerve function, and response to stimuli.
2. Chromosome 2: The second largest human chromosome, spanning about 7% of the human genome. It contains approximately 2,300 genes that are involved in various functions such as metabolism, development, and immune response.
3. Chromosome 3: This is the third largest human chromosome, spanning about 6% of the human genome. It contains approximately 1,900 genes that are responsible for various functions such as DNA repair, cell signaling, and response to stress.

It's worth noting that while these chromosomes contain a large number of genes, they also have significant amounts of non-coding DNA, which means that not all of the genetic material on these chromosomes is responsible for encoding proteins or other functional elements.

Melanoma is defined as a type of cancer that develops from the pigment-containing cells known as melanocytes. It typically occurs in the skin but can rarely occur in other parts of the body, including the eyes and internal organs. Melanoma is characterized by the uncontrolled growth and multiplication of melanocytes, which can form malignant tumors that invade and destroy surrounding tissue.

Melanoma is often caused by exposure to ultraviolet (UV) radiation from the sun or tanning beds, but it can also occur in areas of the body not exposed to the sun. It is more likely to develop in people with fair skin, light hair, and blue or green eyes, but it can affect anyone, regardless of their skin type.

Melanoma can be treated effectively if detected early, but if left untreated, it can spread to other parts of the body and become life-threatening. Treatment options for melanoma include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy, depending on the stage and location of the cancer. Regular skin examinations and self-checks are recommended to detect any changes or abnormalities in moles or other pigmented lesions that may indicate melanoma.

Human chromosome pair 18 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Chromosomes are made up of DNA, protein, and RNA, and they carry genetic information that determines an individual's physical characteristics, biochemical processes, and susceptibility to disease.

Chromosome pair 18 is one of the 23 pairs of chromosomes that make up the human genome. Each member of chromosome pair 18 has a length of about 75 million base pairs and contains around 600 genes. Chromosome pair 18 is also known as the "smart chromosome" because it contains many genes involved in brain development, function, and cognition.

Abnormalities in chromosome pair 18 can lead to genetic disorders such as Edwards syndrome (trisomy 18), in which there is an extra copy of chromosome 18, or deletion of a portion of the chromosome, leading to various developmental and cognitive impairments.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

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).

... is a form of aneuploidy with the presence of only one chromosome from a pair. Partial monosomy occurs when a portion ... Turner syndrome is the only full monosomy that is seen in humans - all other cases of full monosomy are lethal and the ... Cri du chat syndrome - (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a ... Human conditions due to monosomy: Turner syndrome - People with Turner syndrome typically have one X chromosome instead of the ...
Common methods used to detect Monosomy 9p after birth include the use of a stethoscope, X-ray, and EKG. Monosomy 9p is also ... Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has ... "Chromosome 9, Partial Monosomy 9p". NORD (National Organization for Rare Disorders). Retrieved 2021-04-26. "Chromosome 9p ... Finally, karyotyping, a procedure used to examine a patient's chromosomes, can be used to diagnose Monosomy 9p both before ...
... is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2. Almost all people with ... DECIPHER database entry for 2q37 monosomy Genetics home reference for 2q37 deletion syndrome Archived 2012-03-29 at the Wayback ... "Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes". J Med ...
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair, ... Fetuses with monosomy 14 are not viable. Only mosaic cases exist and these usually present with severe symptoms such as ... ISBN 0-683-03445-6. McConnell V, Derham R, McManus D, Morrison PJ (July 2004). "Mosaic monosomy 14: clinical features and ...
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in ...
Turleau, Catherine (2008). "Monosomy 18p". Orphanet Journal of Rare Diseases. 3 (1): 4. doi:10.1186/1750-1172-3-4. ISSN 1750- ... it has been referred to as partial monosomy 18p and, rarely, as "de Grouchy syndrome, type 1". Currently, research is focusing ...
"Distal monosomy 7p (Concept Id: C5190515)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06. "Distal trisomy 1p36 (Concept Id: ... "Monosomy 9q22.3 (Concept Id: C3711390)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06. "Mosaic variegated aneuploidy syndrome 2 ( ...
GPC1 2q37 monosomy Leroy C.; E. Landais; S. Briault; A. David; O. Tassy; N. Gruchy; B. Delobel; M. J. Grégoire; B. Leheup; L. ...
This disease is also known as: 13q- Syndrome, Partial, Deletion 13q Syndrome, Partial Monosomy 13q, Partial Partial Monosomy of ... "Chromosome 13, Partial Monosomy 13q". www.rarediseases.org. Retrieved 2015-07-22. "13q deletion syndrome". www.socialstyrelsen. ... Partial Monosomy 13q appears to affect females slightly more frequently than males. Since the disorder was originally reported ...
The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy ... Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder caused by a sex chromosome monosomy, compared to the ... In the majority of cases where monosomy occurs, the X chromosome comes from the mother. This may be due to a nondisjunction in ... Around 40%-50% of cases of Turner syndrome are true "monosomy X" with a 45,X0 karyotype, while the remainder are mosaic for ...
In rare instances, monosomy 3 tumors may duplicate the remaining copy of the chromosome to return to a disomic state referred ... Gains on chromosomes 6 and 8 are often used to refine the predictive value of the Monosomy 3 screen, with gain of 6p indicating ... Prescher G, Bornfeld N, Hirche H, Horsthemke B, Jöckel KH, Becher R (1996). "Prognostic implications of monosomy 3 in uveal ... Isodisomy 3 is prognostically equivalent to monosomy 3, and both can be detected by tests for chromosome 3 loss of ...
... monosomy 3) to unmask the mutant copy. Because of this function in inactivation of BAP1, monosomy 3 correlates strongly with ... In rare instances, monosomy 3 tumors may duplicate the BAP1-mutant copy of the chromosome to return to a disomic state referred ... Monosomy 3, along with other chromosomal gains, losses, amplifications, and LOH, can be detected in fresh or paraffin-embedded ... Thus, isodisomy 3 is prognostically equivalent to monosomy 3, and both can be detected by tests for chromosome 3 loss of ...
"Distal Partial Trisomy 15q26 and Partial Monosomy 16p13. 3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal ...
The most common abnormality is monosomy of chromosome 22. Other frequent abnormalities include structural rearrangement of 1p, ...
Ras pathway mutations are also associated with monosomy 7. 3 Nonsense (R16X, E73X, R262X) 2 Frameshift (c.1048_c1049 delGG, c. ...
A higher incidence of thyroid autoimmunity was reported in patients with a higher rate of X-chromosome monosomy in peripheral ... July 2005). "X chromosome monosomy: a common mechanism for autoimmune diseases". Journal of Immunology. 175 (1): 575-578. doi: ...
Tupler, R; Berardinelli, A; Barbierato, L; Frants, R; Hewitt, JE; Lanzi, G; Maraschio, P; Tiepolo, L (May 1996). "Monosomy of ...
Major defects of sex chromosomes, i.e. enhanced monosomy X in female patients and an enhanced Y chromosome loss in male ... February 2004). "Frequency of monosomy X in women with primary biliary cirrhosis". Lancet. 363 (9408): 533-535. doi:10.1016/ ...
This can lead to loss of chromosome 7 as described for monosomy 7 and myelodysplastic syndrome and leukemia syndrome-2 (M7MLS2 ... August 2017). "Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome". Leukemia. 31 (8): 1827-1830. ...
Turner's syndrome is also referred to as a monosomy X condition. Xist expression and X-inactivation change throughout embryonic ...
"Mutation analysis of CUTL1 in childhood myeloid neoplasias with monosomy 7". Leukemia Research 2007, 31:1323-4. Patrikis M, ...
August 1985). "Partial trisomy 5q and partial monosomy 5q within the same family". Clin. Genet. 28 (2): 122-9. doi:10.1111/j. ...
Trisomy is caused by the presence of one additional chromosome in the zygote as compared to the normal number, and monosomy is ... There are two main types of nondisjunction that occur: trisomy and monosomy. ...
1984). "Bone marrow monosomy 7: hematologic and clinical manifestations in childhood and adolescence". Hematological Oncology. ... monosomy 7 Mouse orthologue of ARX MRP4 Msi-1 Musashi Musashi-1 Mutant BCRP nestin neurofilament microtubule-associated protein ...
Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q ... Almost all cases of partial monosomy 13q occur randomly for no apparent reason (sporadic). G-banding ideograms of human ... of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of ...
... is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy" or " ... These individuals may have more severe disease than those with isolated monosomy of 5p. A recent study suggests this may not be ... The remaining 10-15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy is often ... "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion. ...
Eloise has a rare chromosomal disorder, Chromosome 8, Monosomy 8p, which affects her speech. Richards has worked on learning ...
"Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase". Genes, ...
White blood cell count >10 x 109/L. Clonal chromosomal abnormality (e.g., monosomy 7). Granulocyte-macrophage colony- ... and infantile monosomy 7 syndrome. The average age of patients at diagnosis is two (2) years old. The World Health Organization ... Mutation in RAS or PTPN11 Diagnosis of neurofibromatosis 1 Chromosome 7 monosomy Or two or more of the following criteria: ... evidence for a graft-versus-leukemia effect in non-monosomy-7 JMML". Bone Marrow Transplantation. 33 (1): 113-115. doi:10.1038/ ...
Juvenile monosomy 7 syndrome: Evidence that the disease originates in a pluripotent hemopoietic stem cell. Leuk Res 11: 705-709 ...
Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. Partial monosomy occurs when a portion ... Turner syndrome is the only full monosomy that is seen in humans - all other cases of full monosomy are lethal and the ... Cri du chat syndrome - (French for "cry of the cat" after the persons malformed larynx) a partial monosomy caused by a ... Human conditions due to monosomy: Turner syndrome - People with Turner syndrome typically have one X chromosome instead of the ...
Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced ...
Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th ... What are the symptoms for monosomy 9p partial?. Receding chin symptom was found in the monosomy 9p partial condition. ... In individuals with Chromosome 9, Partial Monosomy 9p, there is deletion (monosomy) of part of the end (distal) region of the ... The name "monosomy 9p" refers to the fact that there are only two copies (instead of the usual three) of the short arm of ...
Monosomy 9q22.3?. Our RARE Concierge Services Guides are available to assist you by providing information, resources and ... Monosomy 9q22.3. Synonyms: Microdeletion 9q22.3. Interstitial 9q22.3 microdeletion is associated with a phenotype including ...
Monosomy 10p is a rare genetic disorder caused by the deletion of a small portion of the short arm of chromosome 10. This ... Chromosome 10, Monosomy 10p is a rare genetic disorder caused by the partial or complete absence of the short arm of chromosome ... The symptoms of Chromosome 10, Monosomy 10p can vary depending on the severity of the condition, but some of the most common ... At this time, there is no cure for Chromosome 10, Monosomy 10p. However, there are medications that can help manage the ...
Monosomy can be partial if a portion of the second chromosome copy is present. Monosomy, or partial monosomy, is the cause of ... What does monosomy cause?. = Monosomy is the state of having a single copy of a chromosome pair instead of the usual two copies ... Monosomy: Missing one chromosome from a pair. For example, if a female has one X chromosome (X monosomy) rather than two, she ... How does monosomy occur in humans?. Monosomy may be caused by a nondisjunction during cell division, particularly meiosis. A ...
Monosomy X (Turner syndrome). Turner syndrome is frequently observed and is the most common chromosomal abnormality observed in ... leading to partial trisomy for 1 chromosome and partial monosomy for the other chromosome. The severity of the phenotype ...
Follow this link to review classifications for 11q partial monosomy syndrome in Orphanet. ... 11q partial monosomy syndrome (4325000). Modes of inheritance:. Unknown inheritance. MedGen UID: 989040. •Concept ID: CN307042 ...
Open the PDF for Monosomy 7 ,span class=search-highlight,Myelodysplasia,/span, in Childhood: Two Case Reports in another ... Akif Yeşilipek; Güven Lüleci; Sevtap Velipaşaoğlu; Sibel Berker; Olcay Yeğin Monosomy 7 myelodysplasia is a rare hematological ... View article titled, Monosomy 7 ,span class=search-highlight,Myelodysplasia,/span, in Childhood: Two Case Reports ...
Monosomy: Absence of the X chromosome that occurs due to a defect in the fathers sperm or in the mothers egg. ...
All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the ... All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the ... All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the ... All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the ...
Distal monosomy 10q. *Monosomy 10qter. *Telomeric deletion 10. *Terminal chromosome 10q26 deletion syndrome ...
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med ...
Here we present postmortem neuropathological findings from a 10 year-old girl with monosomy 1p36, who died of respiratory ... Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including polymicrogyria and nodular ... Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. ... Thus, the accuracy of the PMG diagnosis in monosomy 1p36, and its relation to other forms of PMG (not associated with monosomy ...
The mechanisms of formation of the UPD included trisomy rescue, with and without concomitant trisomy, monosomy rescue, and ...
Open the PDF for Trilineage Acute Leukaemia in Combined Ph 1 -Chromosome Positivity and Monosomy 7 in another window ... View article titled, Trilineage Acute Leukaemia in Combined Ph 1 -Chromosome Positivity and Monosomy 7 ... Trilineage Acute Leukaemia in Combined Ph 1 -Chromosome Positivity and Monosomy 7 ...
Synonyms for chrosomal abnormality and other words similar to chrosomal abnormality in our thesaurus. Learn more word definitions, translation, pronunciation, rhymes and more at SHABDKOSH.
Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3) ...
Chromosome 6, monosomy 6q ...
Monosomy. Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two ... Monosomy, or partial monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. MORE ... When cells have one chromosome from a pair plus a portion of the second chromosome, this is referred to as partial monosomy. ...
Here we describe the case of a patient with CML who developed monosomy 7 in Ph(-) cells during dasatinib therapy. At 20 months ... Genome-wide 500K SNP array analysis of the monosomy 7 clone revealed no acquired submicroscopic copy number changes. Given the ... A fraction of these patients, in particular those displaying trisomy 8 or monosomy 7, are at risk of developing a ... Genetic analysis of dasatinib-treated chronic myeloid leukemia rapidly developing into acute myeloid leukemia with monosomy 7 ...
Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable ...
... and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with ... monosomy, 7 (3.5%) hyperdiploidy, and 5 (2.5%) deletion. In contrast, a total of 103 (51%) of patients were normal without any ... The combination of monosomy and hypodiploidy was only observed in patients with Burkitt and Jack 2 kinase positive disorders. ...
Interphase Cytogenetic Studies of Fanconi Anemia Patients: Significance of Monosomy 7. 1996 , Research Grant , Nyla A. Heerema ...
... monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). Our data confirm that adult and pediatric MDS are separate ... The presence of monosomy 7 has also been associated with somatic mutations in SETBP1 38 and germline alterations in GATA2 15. ... 15 and 16). Within the primary MDS cohort, the presence of Ras/MAPK mutations, monosomy 7 or germline SAMD9/SAMD9L variants do ... Monosomy 7 is a known cytogenetic abnormality in many myeloid tumors, and previous studies have demonstrated that it occurs in ...
With certain chromosomal conditions - trisomy 13 and 18, and monosomy X.. Additional clinical tips:. *Iniencephaly is more ...
Chromosome 3 monosomy and/or amplification of chromosome 8q in the choroidal tumor has been shown to be associated with a ... The other half are class 2, which have a different gene expression pattern, frequently showing chromosome 3 monosomy, and carry ... Gene expression profiling outperforms monosomy 3 at predicting metastatic spread. This test is commercially available through ...
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Around 50 cases of pure distal monosomy 10p have been reported.. Clinical description Distal monosomy 10p encompassing the ... Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted ... Management of 10p monosomy includes a comprehensive evaluation of the major clinical criteria: developmental delay, feeding ... Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. ...
  • Human conditions due to monosomy: Turner syndrome - People with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. (wikipedia.org)
  • Turner syndrome is the only full monosomy that is seen in humans - all other cases of full monosomy are lethal and the individual will not survive development. (wikipedia.org)
  • For example, if a female has one X chromosome (X monosomy) rather than two, she has Turner syndrome. (diaridelsestudiants.com)
  • Monosomy, or partial monosomy, is the cause of some human diseases such as Turner syndrome and Cri du Chat syndrome. (diaridelsestudiants.com)
  • It's also called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. (diaridelsestudiants.com)
  • There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. (chkd.org)
  • About half of all girls with Turner syndrome have a monosomy disorder. (chkd.org)
  • A fraction of these patients, in particular those displaying trisomy 8 or monosomy 7, are at risk of developing a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). (lu.se)
  • The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype. (orpha.net)
  • RÉSUMÉ La présente étude a examiné les cellules souches hématopoïétiques de 19 cas de syndrome myélodysplasique de haut risque à la recherche de signaux apoptotiques et anti-apoptotiques et de proliférations cellulaires et a établi un lien entre ces derniers et les sous-types cytogénétiques et cliniques, en particulier la trisomie 8. (who.int)
  • Les cas de syndrome myélodysplasique de haut risque avaient un pourcentage nettement supérieur de cellules CD34+ apoptotiques et de survivine+ anti- apoptotiques par rapport aux témoins, en particulier dans les cas atteints de trisomie 8. (who.int)
  • Amygdala and hippocampal volumes in Turner syndrome: A high-resolution MRI study of X-monosomy. (bvsalud.org)
  • Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. (mentalhealthhelpcenter.com)
  • Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. (elsevierpure.com)
  • Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. (biomedcentral.com)
  • Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). (nature.com)
  • With certain chromosomal conditions - trisomy 13 and 18, and monosomy X. (cdc.gov)
  • Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. (orpha.net)
  • This chromosomal alteration only affects female individuals, who have monosomy of the X chromosome. (bvsalud.org)
  • This report describes the echocardiographic findings and the congenital heart defects associated with the third case of molecularly confirmed full monosomy 21 in the literature. (elsevierpure.com)
  • It also is the first description of a left pulmonary artery aneurysm and decreased left ventricular function as a component in the spectrum of defects found in full monosomy 21. (elsevierpure.com)
  • The different conditions of aneuploidy are nullisomy (2N-2), monosomy (2N-1), trisomy (2N+1), and tetrasomy (2N+2). (diaridelsestudiants.com)
  • Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication? (igenomix.com)
  • Around 50 cases of pure distal monosomy 10p have been reported. (orpha.net)
  • Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. (orpha.net)
  • Because of partial trisomy 6 and monosomy 20, also classifiable as sudden unexpected death in infancy. (cdc.gov)
  • Prader-Willi is caused by either deletions, failure in imprinting, or monosomy/disomy 15 from the father's side. (bartleby.com)
  • As noted above, Chromosome 9, Partial Monosomy 9p is also associated with characteristic abnormalities of the skull and facial (craniofacial) region. (mentalhealthhelpcenter.com)
  • The symptoms of Chromosome 10, Monosomy 10p can vary depending on the severity of the condition, but some of the most common symptoms include: developmental delays, intellectual disability, facial abnormalities, growth delays, hearing loss, and vision problems. (rarediseaseshealthcenter.com)
  • Although neuropsychiatric abnormalities are pivotal phenotypes in monosomy 1p36, their pathogenesis remains poorly understood. (biomedcentral.com)
  • Genetic analysis of dasatinib-treated chronic myeloid leukemia rapidly developing into acute myeloid leukemia with monosomy 7 in Philadelphia-negative cells. (lu.se)
  • In April 2016, Quade was diagnosed with acute myeloid leukemia (AML) with monosomy 7, a deadly type of blood cancer not common in pediatrics. (lls.org)
  • In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. (mentalhealthhelpcenter.com)
  • Chromosome 10, Monosomy 10p is a rare genetic disorder caused by the partial or complete absence of the short arm of chromosome 10. (rarediseaseshealthcenter.com)
  • Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including polymicrogyria and nodular heterotopia, but the histopathology of these lesions is unknown. (biomedcentral.com)
  • Here we present postmortem neuropathological findings from a 10 year-old girl with monosomy 1p36, who died of respiratory complications. (biomedcentral.com)
  • Our results suggest that brain and spinal malformations in monosomy 1p36 may be more extensive than previously recognized, and may depend on the parental origin of deleted genes. (biomedcentral.com)
  • In the present case report, we present the first neuropathological analysis of brain and spinal cord malformations in monosomy 1p36, from postmortem examination of a girl who died at 10 years of age. (biomedcentral.com)
  • Choroid plexus hyperplasia and monosomy 1p36: report of new findings. (rochester.edu)
  • Monosomy 10qter: a new case. (bmj.com)
  • Two children with monosomy 10p13 are reported. (bmj.com)
  • Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. (medlineplus.gov)
  • Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. (genomeweb.com)
  • Individuals with Chromosome 9, Partial Monosomy 9p may also have various malformations of the hands and feet. (mentalhealthhelpcenter.com)
  • 1. Genetic counseling: This is important for individuals and families affected by Monosomy 10p to understand the condition and its implications. (rarediseaseshealthcenter.com)
  • All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. (elsevierpure.com)
  • In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. (bmj.com)
  • Partial monosomy occurs when a portion of one chromosome in a pair is missing. (wikipedia.org)
  • Given the strong association between monosomy 7 and mutation of genes involved in the RAS pathway in juvenile myelomonocytic leukemia, we also screened for pathogenetic variants in KRAS, NRAS, and PTPN11, but did not detect any changes. (lu.se)
  • In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically). (mentalhealthhelpcenter.com)
  • The mechanisms of formation of the UPD included trisomy rescue, with and without concomitant trisomy, monosomy rescue, and mitotic formation of a mosaic segmental UPD. (nih.gov)
  • Here we describe the case of a patient with CML who developed monosomy 7 in Ph(-) cells during dasatinib therapy. (lu.se)
  • Monosomy 7 is most often associated with juvenile myelomonocytic leukemia (JMML), and as many as 30% of children with JMML have a deletion of all or part of chromosome 7. (medscape.com)
  • Monosomy is the state of having a single copy of a chromosome pair instead of the usual two copies found in diploid cells. (diaridelsestudiants.com)
  • Genome-wide 500K SNP array analysis of the monosomy 7 clone revealed no acquired submicroscopic copy number changes. (lu.se)
  • Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
  • Monosomy can be partial if a portion of the second chromosome copy is present. (diaridelsestudiants.com)
  • A partial monosomy can occur when only a portion of the chromosome is lost and therefore there is only a single copy of the chromosome while the rest has two copies. (diaridelsestudiants.com)
  • Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. (nih.gov)
  • Partial monosomy of chromosome 10 short arms. (bmj.com)