Xyy karyotype. Medical search. Definitions

Abnormal genetic constitution in males characterized by an extra Y chromosome.

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).

The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)

Mapping of the KARYOTYPE of a cell.

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.

Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)

Treatment for individuals with speech defects and disorders that involves counseling and use of various exercises and aids to help the development of new speech habits.

Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These disorders may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA.

The capacity to conceive or to induce conception. It may refer to either the male or female.

Evaluation of antecedent stimulus parameters for the treatment of escape-maintained aberrant behavior. (1/26)

We evaluated a methodology for identifying the range of stimulus features of antecedent stimuli associated with aberrant behavior in demand contexts in natural settings. For each participant, an experimental analysis of antecedents (Phase 1) was conducted to confirm the hypothesis that task instructions occasioned increases in aberrant behavior. During Phase 2, specific stimulus features associated with the presentation of task instructions were assessed by evaluating the child's behavior across two distinct settings, therapists, and types of tasks in a sequential fashion. Aberrant behavior occurred immediately across settings and therapists, presumably because the presence of a discriminative stimulus for escape-maintained behavior (the delivery of a task instruction) occasioned aberrant behavior. However, aberrant behavior decreased initially across tasks, suggesting that familiarity with the task might be a variable. During Phase 3, an experimental (functional) analysis of consequences was conducted with 2 participants to verify that aberrant behavior was maintained by negative reinforcement. During Phase 4, a treatment package that interspersed play with task instructions was conducted to disrupt the ongoing occurrence of aberrant behavior. Immediate and durable treatment effects occurred for 2 of the 3 participants. (+info)

Fluorescence in-situ hybridization analysis of chromosomal constitution in spermatozoa from a mosaic 47,XYY/46,XY male. (2/26)

Sex-chromosome mosaicism in spermatozoa from a mosaic 47,XYY[20%]/46, XY[80%] male with fertility problems was assessed using triple-probe fluorescence in-situ hybridization (FISH) studies. Chromosome-specific probes for X, Y and 18 were used, and the possible outcomes were deduced. In normal haploid spermatozoa of the patient and a normal 46,XY male control, the X:Y ratio was close to 1:1. There was a significant difference in the total incidence of karyotypically abnormal spermatozoa between the patient and the 46, XY male control (2.31% versus 1.46%, P < 0.0001). The incidence of some types of disomic spermatozoa X+Y+18 (24,XY) and X+18+18 (24,X, +18), or diploid X+Y+18+18 (46,XY) spermatozoa was significantly increased in the patient's semen sample. There was, however, no significant difference in the incidence of disomic Y+Y+18 (24,YY) spermatozoa. Because the majority of the patient's spermatozoa was karyotypically normal, the aetiology of his fertility problems was unclear. These results add to the growing body of information regarding chromosome abnormalities in spermatozoa from men who are mosaic for sex chromosome abnormalities. In these men, FISH analysis of spermatozoa may be warranted to determine the relative percentages of abnormal cells, and to determine if in-vitro fertilization with preimplantation genetic diagnosis may increase the likelihood of a successful pregnancy. (+info)

Abnormal children of a 47,XYY father. (3/26)

Abnormal children of two 47,XYY men were studied. One of these men had 2 normal daughters and a child, 45,X/46,XY, with gonadal dysgenesis. The other man had 2 normal sons and a child with Down's syndrome. The extra chromosome 21 of this child came from the mother. Another 47,XYY man had 4 normal children. (+info)

Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males. (4/26)

BACKGROUND: In order to assess sperm alterations observed in some XYY males, we analysed the chromosome constitution as well as apoptosis expression in germ cells from two oligozoospermic males with high count of immature germ cells in their semen. METHODS: Sex chromosome number and distribution were assessed at pachytene stage by fluorescence in situ hybridization (FISH). Immature germ cells and spermatozoa were examined by FISH and TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end (TUNEL) assay, combined with immunocytochemistry using the proacrosin-specific monoclonal antibody (mAb 4D4). RESULTS: For patients 1 and 2, two Y chromosomes were present in respectively 60.0 and 39.6% of pachytenes. The three sex chromosomes were always in close proximity and partially or totally condensed in a sex body. XYY spermatocytes I escape the pachytene checkpoint and achieve meiosis. Nevertheless, nuclear division and/or cytokinesis were often impaired during meiosis leading to diploid (mainly 47,XYY cells) and tetraploid (94,XXYYYY) meiocytes. The presence of binucleated (23,Y)(24,XY) immature germ cells resulting from cytokinesis failure agree with a preferential segregation of the two Y chromosomes during meiosis I. In addition, 69.6% (patient 1) and 53.12% (patient 2) of post-reductional round germ cells were XY. However, high level of apoptotic round germ cells (94.9% for patient 1 and 93.3% for patient 2) was detected and may explain the moderate increase of hyperhaploid XY spermatozoa. Segregation errors also occurred in the XY cell line responsible for disomic 18 and X, as well as 46,XY diploid spermatozoa. CONCLUSIONS: Our data are in agreement with the persistence of the extra Y chromosome during meiosis in XYY oligozoospermic males responsible for spermatogenesis impairment and a probable elimination via apoptosis of most XYY germ cells not solely during but also after meiosis. (+info)

Pachytene asynapsis drives meiotic sex chromosome inactivation and leads to substantial postmeiotic repression in spermatids. (5/26)

Transcriptional silencing of the sex chromosomes during male meiosis (MSCI) is conserved among organisms with limited sex chromosome synapsis, including mammals. Since the 1990s the prevailing view has been that MSCI in mammals is transient, with sex chromosome reactivation occurring as cells exit meiosis. Recently, we found that any chromosome region unsynapsed during pachytene of male and female mouse meiosis is subject to transcriptional silencing (MSUC), and we hypothesized that MSCI is an inevitable consequence of this more general meiotic silencing mechanism. Here, we provide direct evidence that asynapsis does indeed drive MSCI. We also show that a substantial degree of transcriptional repression of the sex chromosomes is retained postmeiotically, and we provide evidence that this postmeiotic repression is a downstream consequence of MSCI/MSUC. While this postmeiotic repression occurs after the loss of MSUC-related proteins at the end of prophase, other histone modifications associated with transcriptional repression have by then become established. (+info)

Genetic and epigenetic risks of intracytoplasmic sperm injection method. (6/26)

Pregnancies achieved by assisted reproduction technologies, particularly by intracytoplasmic sperm injection (ICSI) procedures, are susceptible to genetic risks inherent to the male population treated with ICSI and additional risks inherent to this innovative procedure. The documented, as well as the theoretical, risks are discussed in the present review study. These risks mainly represent that consequences of the genetic abnormalities underlying male subfertility (or infertility) and might become stimulators for the development of novel approaches and applications in the treatment of infertility. In addition, risks with a polygenic background appearing at birth as congenital anomalies and other theoretical or stochastic risks are discussed. Recent data suggest that assisted reproductive technology might also affect epigenetic characteristics of the male gamete, the female gamete, or might have an impact on early embryogenesis. It might be also associated with an increased risk for genomic imprinting abnormalities. (+info)

Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia. (7/26)

AIM: To investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group. METHODS: From June 2003 to November 2005, 50 azoospermic and 80 oligozoospermic men were enrolled in the study. A detailed history was taken for each man, followed by general and genital examinations. Y chromosome microdeletions were detected by multiplex polymerase chain reaction (PCR) using 11 gene-specific primers that covered all three regions of the azoospermic factor (AZFa, AZFb and AZFc). Fifty men with normal semen analysis were also studied. Karyotyping was done with the standard G- and Q-banding. Serum concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL) and testosterone were measured by electrochemiluminescence immunoassays (ECLIA). RESULTS: Azoospermia and oligozoospermia could be explained by previous orchitis in 22.3%, former bilateral cryptorchidism in 19.2%, abnormal karyotypes in 4.6% and Y chromosome microdeletions in 3.8% of the subjects. The most frequent deletions were in the AZFc region (50%), followed by AZFb (33%) and AZFbc (17%). No significant difference was detected in hormonal profiles of infertile men, with or without microdeletions. CONCLUSION: The frequencies of Y chromosome microdeletions and cytogenetic abnormalities in oligozoospermic and azoospermic Thai men are comparable with similarly infertile men from other Asian and Western countries. (+info)

A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype. (8/26)

Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY. (+info)

XYY karyotype is a chromosomal abnormality where an individual's cells have one extra Y chromosome, resulting in a 47, XYY pattern of sex chromosomes. This condition is also known as Jacob's syndrome or XYY syndrome. Typically, human cells contain 23 pairs of chromosomes, for a total of 46 chromosomes, with one pair being the sex chromosomes (XX in females and XY in males). In an XYY karyotype, there are two Y chromosomes and one X chromosome, which can lead to developmental differences and various health concerns.

Individuals with XYY karyotype may have a higher risk of developing learning disabilities, speech and language delays, and behavioral issues such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorders. However, many people with XYY karyotype do not experience significant health problems and can lead typical lives with appropriate support and interventions.

It is important to note that an XYY karyotype does not typically affect physical characteristics, and most individuals with this condition are phenotypically male. However, they may be taller than their peers due to the influence of the extra Y chromosome on growth hormones.

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.

A karyotype is a method used in genetics to describe the number and visual appearance of chromosomes in the nucleus of a cell. It includes the arrangement of the chromosomes by length, position of the centromeres, and banding pattern. A karyotype is often represented as a photograph or image of an individual's chromosomes, arranged in pairs from largest to smallest, that has been stained to show the bands of DNA. This information can be used to identify genetic abnormalities, such as extra or missing chromosomes, or structural changes, such as deletions, duplications, or translocations. A karyotype is typically obtained by culturing cells from a sample of blood or tissue, then arresting the cell division at metaphase and staining the chromosomes to make them visible for analysis.

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 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.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Speech Therapy, also known as Speech-Language Pathology, is a medical field that focuses on the assessment, diagnosis, treatment, and prevention of communication and swallowing disorders in children and adults. These disorders may include speech sound production difficulties (articulation disorders or phonological processes disorders), language disorders (expressive and/or receptive language impairments), voice disorders, fluency disorders (stuttering), cognitive-communication disorders, and swallowing difficulties (dysphagia).

Speech therapists, who are also called speech-language pathologists (SLPs), work with clients to improve their communication abilities through various therapeutic techniques and exercises. They may also provide counseling and education to families and caregivers to help them support the client's communication development and management of the disorder.

Speech therapy services can be provided in a variety of settings, including hospitals, clinics, schools, private practices, and long-term care facilities. The specific goals and methods used in speech therapy will depend on the individual needs and abilities of each client.

A learning disorder is a neurodevelopmental disorder that affects an individual's ability to acquire, process, and use information in one or more academic areas despite normal intelligence and adequate instruction. It can manifest as difficulties with reading (dyslexia), writing (dysgraphia), mathematics (dyscalculia), or other academic skills. Learning disorders are not the result of low intelligence, lack of motivation, or environmental factors alone, but rather reflect a significant discrepancy between an individual's cognitive abilities and their academic achievement. They can significantly impact a person's ability to perform in school, at work, and in daily life, making it important to diagnose and manage these disorders effectively.

Fertility is the natural ability to conceive or to cause conception of offspring. In humans, it is the capacity of a woman and a man to reproduce through sexual reproduction. For women, fertility usually takes place during their reproductive years, which is from adolescence until menopause. A woman's fertility depends on various factors including her age, overall health, and the health of her reproductive system.

For men, fertility can be affected by a variety of factors such as age, genetics, general health, sexual function, and environmental factors that may affect sperm production or quality. Factors that can negatively impact male fertility include exposure to certain chemicals, radiation, smoking, alcohol consumption, drug use, and sexually transmitted infections (STIs).

Infertility is a common medical condition affecting about 10-15% of couples trying to conceive. Infertility can be primary or secondary. Primary infertility refers to the inability to conceive after one year of unprotected sexual intercourse, while secondary infertility refers to the inability to conceive following a previous pregnancy.

Infertility can be treated with various medical and surgical interventions depending on the underlying cause. These may include medications to stimulate ovulation, intrauterine insemination (IUI), in vitro fertilization (IVF), or surgery to correct anatomical abnormalities.

XYY syndrome is characterized by an extra copy of the Y chromosome in each of a males cells. Explore symptoms, inheritance, ... The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet. 1999 Nov;8(12):2205-9. doi: 10.1093/hmg/ ... Some people with 47,XYY syndrome have an extra Y chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY ... 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome. in each of a males cells. As a result of the ...

https://medlineplus.gov/genetics/condition/47xyy-syndrome/

Around 1 in 1,000 boys are born with a 47,XYY karyotype. The incidence of 47,XYY is not known to be affected by the parents ... XYY karyotype, and mischaracterized them as aggressive and violent criminals. Over the next decade, almost all published XYY ... XYY. Prenatal testosterone levels are normal in 47,XYY males. Most 47,XYY males have normal sexual development and have normal ... The first published report of a man with a 47,XYY karyotype was by the American cytogeneticist Avery Sandberg and his ...

https://en.wikipedia.org/wiki/XYY_syndrome

4. XYY SYNDROME. An XYY syndrome karyotype / Wellcome Collection // CC BY 4.0. ... XYY was used as a defense in the trial of a French murderer, and has been brought up in regard to the case of Richard Speck, ... In fact, most XYY men are unaware of their genetic quirk and blend perfectly well into the rest of the population. While two ... But what does the science say? While men with XYY syndrome tend to be taller, more active, and have a greater chance of having ...

https://www.mentalfloss.com/article/513934/4-suspect-historical-theories-predicting-criminality

An XYY karyotype is observed in 0.1-0.4% of newborn males. These patients are often tall and severely oligospermic or ... An XX karyotype is due to a crossover of the sex-determining region (SRY) of the Y chromosome (with the testis determining ... Karyotype shows a normal SRY gene. Patients may achieve normal virilization and adult phenotype through the administration of ... Classic Klinefelter syndrome has a 47, XXY karyotype and is caused by a nondisjunction during the first meiotic division, more ...

https://emedicine.medscape.com/article/436829-overview

47, XYY syndrome Also known as: YY syndrome XYY syndrome XYY Karyotype Jacobs syndrome 47,XYY syndrome Disomy Y Double Y Double ...

https://rarediseases.org/gard-rare-disease/page/4/

Sex chromosome trisomies (SCTs) (XXX, XXY, and XYY karyotypes) are associated with an elevated risk of neurodevelopmental ... two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. ... A sample of 125 children with an SCT were compared with 181 children of normal karyotype who had been given the same ... and 45 boys with XYY). Children from a twin study using the same phenotype measures will form two comparison groups (Ns = 184 ...

https://www.brookes.ac.uk/profiles/staff/dianne-newbury

Other names for Jacobs syndrome are XYY Karyotype, XYY syndrome and YY syndrome. Males who are born with this syndrome do not ... The first incidence of this syndrome was reported in 1961 after a man was karyotyped who had a daughter with Down Syndrome.The ... However, many researchers rejected the his findings and set about to create studies to support the idea that XYY males tended ...

https://www.ihealthdirectory.com/jacobs-syndrome/

Other male with 46, XX karyotype. Q98.4. Klinefelter syndrome, unspecified. Q98.5. Karyotype 47, XYY. ...

https://codemap.com/dlslab/coverage.cfm?cpt=88237&state=00000

This points to a genetic cause and in fact, defects in XYY karyotype or chromosomal composition have been associated with ...

https://www.progressivehealth.com/acne-conglobata.htm

47,XYY karyotypes and pervasive developmental disorders.. Can J Psychiatry. 1998 Aug;43(6):619-22.. OBJECTIVE: The presence of ... It is of utmost importance to obtain a clear idea of the developmental profile of boys with karyotype 47,XYY and of possible ... The literature on psychosocial development as well as brain morphology and physiology in males with 47, XYY karyotypes is ... XYY karyotypes suggests that the rate of this sex chromosome anomaly may be increased in PDDs. An extra Y chromosome may be ...

https://www.neurotransmitter.net/autismgenetic.html