Sex Chromosome Disorders
Karyotype
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.
XYY syndrome
XYYY syndrome
XY sex-determination system
Avery Sandberg
Serial killer
List of MeSH codes (C23)
List of MeSH codes (G13)
XXXYY syndrome
Richard Speck
Y chromosome
Trisomy X
Tetrasomy X
Intersex
Polysomy
Patricia Jacobs
Klinefelter syndrome
Trisomy
Chromosome
Nondisjunction
Pentasomy X
Turner syndrome
List of geneticists
XYYYY syndrome
Index of genetics articles
Sex
Cytogenetics
47,XYY syndrome: MedlinePlus Genetics
XYY syndrome - Wikipedia
4 Suspect Historical Theories for Predicting Criminality | Mental Floss
Male Infertility: Practice Essentials, Background, Pathophysiology
GARD Rare Disease Information
Dr Dianne Newbury - Oxford Brookes University
Jacob's syndrome | iHealth Directory
National Coverage Determination: Cytogenetic Studies
Acne Conglobata - What is it? - ProgressiveHealth.com
Autism Genetic Research -- Neurotransmitter.net
Male Infertility Clinical Presentation: History, Physical, Causes
PRSweb
Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome | Journal of...
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification...
Chapter 2: Etiology of Adult Sexual Offending | Office of Sex Offender Sentencing, Monitoring, Apprehending, Registering, and...
Pesquisa | Portal Regional da BVS
Infertility is a relatively common health condition affecting nearly 7% of - biobender.com
MESH TREE NUMBER CHANGES - 2012 MeSH. August 19, 2011
MESH TREE NUMBER CHANGES - 2012 MeSH. August 19, 2011
MESH TREE NUMBER CHANGES - 2012 MeSH. August 19, 2011
MESH TREE NUMBER CHANGES - 2012 MeSH. August 19, 2011
MESH TREE NUMBER CHANGES - 2012 MeSH. August 19, 2011
Science matters: XYY
Forensic psychology
Chromosome21
- 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. (medlineplus.gov)
- Some people with 47,XYY syndrome have an extra Y chromosome in only some of their cells. (medlineplus.gov)
- and other cells have one X chromosome and two Y chromosomes (47,XYY). (medlineplus.gov)
- XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. (wikipedia.org)
- The increased gene dosage of three X/Y chromosome pseudoautosomal region (PAR1) SHOX genes has been postulated as a cause of the increased stature seen in all three sex chromosome trisomies: 47,XXX, 47,XXY, and 47,XYY. (wikipedia.org)
- In contrast to the other common sex chromosome aneuploidies-47,XXX and 47,XXY (Klinefelter syndrome)-the average of the IQ scores of 47,XYY boys identified by newborn screening programs was not reduced compared to the general population. (wikipedia.org)
- In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening program had learning difficulties and received part-time resource room help compared to 11% (1 of 9) in an above-average-IQ control group of 46,XY boys with familial balanced autosomal chromosome translocations. (wikipedia.org)
- The first incidence of this syndrome was reported in 1961 after a man was karyotyped who had a daughter with Down Syndrome.The cause of this genetic error is a random formation of sperm cells which causes the extra copy of the Y chromosome to be passed on to the embryo. (ihealthdirectory.com)
- Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. (biomedcentral.com)
- Rarely infertile men with normal karyotype have chromosome aberrations in sperm [16]. (biobender.com)
- It has been shown that germ cells with an extra Y chromosome from men with the 47 XYY karyotype have abnormal meiotic pairing suggesting disrupted meiosis eventual sperm apoptosis and subsequent oligozoospermia and infertility [15 16 Structural chromosomal abnormalities (SCAs) include deletions duplications translocations (balanced imbalanced and Robertsonian) and inversions. (biobender.com)
- XYY syndrome is a rare genetic condition that occurs in males, only when they are born with an additional Y chromosome in most or all of their cells. (askapollo.com)
- Sex chromosome abnormalities like XYY syndrome occurs in 1 out of 1000 boys. (askapollo.com)
- When the extra chromosome results from an error in the cell division during the embryo's development, the boy may have a mosaic form of XYY syndrome. (askapollo.com)
- A physician can also diagnose XYY syndrome through clinical evaluation, patient history, and tests like karyotype (chromosomal analysis) or non-invasive prenatal testing (NIPT) that is used to detect the extra Y chromosome. (askapollo.com)
- [7] All Y-linked genes are expressed and (apart from duplicated genes) hemizygous (present on only one chromosome) except in the cases of aneuploidy such as XYY syndrome or XXYY syndrome . (iiab.me)
- The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. (viamedica.pl)
- Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. (viamedica.pl)
- 2012) most studies have focused instead on individuals who have the XYY or "supermale" mutation, in which males have an extra Y chromosome. (gradesfixer.com)
- Turner syndrome is associated with a 45,X karyotype, with a single X chromosome . (winetourismday.org)
- DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. (biomedcentral.com)
Chromosomal6
- This points to a genetic cause and in fact, defects in XYY karyotype or chromosomal composition have been associated with severe forms of acne conglobata. (progressivehealth.com)
- Increased germ cell defects have been reported for chromosomes 21 22 X and Y [15 16 Klinefelter syndrome (KS karyotype 47 XXY) is the most common chromosomal aberration detected in up to 14% of infertile patients with azoospermia [17]. (biobender.com)
- METHODS@#The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH). (bvsalud.org)
- These drugs are associated with a high prevalence of chromosomal abnormalities in bone marrow [-5, del(5q), -7, del(q) and complex karyotype]. (medscape.com)
- Chromosomal translocations can be detected by analyzing karyotypes of the affected cells. (gwu.edu)
- Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)
Klinefelter3
- i.e. azoospermia and oligozoospermia [6 11 12 15 The aberrations include numerical defects such as the XYY karyotype in Klinefelter syndrome or its variants and structural rearrangements Robertsonian translocations balanced reciprocal AVL-292 translocations and inversions. (biobender.com)
- Among humans, some men have two Xs and a Y ("XXY", see Klinefelter syndrome ), or one X and two Ys (see XYY syndrome ), and some women have three Xs or a single X instead of a double X ("X0", see Turner syndrome ). (iiab.me)
- Typical aneuploidies are assessed in the SANCO test: monosomy X-Turner syndrome, and trisomies - Klinefelter syndrome XXY, syndrome XXX and XYY. (sancotest.pl)
Chromosomes6
- There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. (wikipedia.org)
- I've been determined to write about XYY males for a month or more but have been distracted by more pressing issues and also by the didactic necessity to explain the anomalies (previously I , II ) which science has discovered in the count of human chromosomes. (blogspot.com)
- The first case of XYY was published in the Lancet in August 1961 and it was revealed entirely by accident when trying to count the chromosomes of a guy [he was American] who had fathered two daughters with Down Syndrome. (blogspot.com)
- This means that only some cells have extra Y chromosomes, leading to fewer symptoms of XYY syndrome. (askapollo.com)
- Among the latter rats, one had the XYY sex chromosomes which were suggested to be developed by non-disjunction of the Y element in the meiosis of the translocation male parent. (go.jp)
- Mosaicism is not uncommon, however, with a separate cell line containing either a normal 46,XX or XY karyotype, or 46 chromosomes including a structurally rearranged X or Y. (winetourismday.org)
Males10
- Prenatal testosterone levels are normal in 47,XYY males. (wikipedia.org)
- Most 47,XYY males have normal sexual development and have normal fertility. (wikipedia.org)
- Developmental delays and behavioral problems are also found, but these characteristics vary widely among affected boys and men, are not unique to 47,XYY and are managed no differently from in 46,XY males. (wikipedia.org)
- Aggression is not seen more frequently in 47,XYY males. (wikipedia.org)
- Increased testosterone levels were found to be correlated with an increased risk of aggressive behavior in incarcerated males with 47,XYY syndrome. (wikipedia.org)
- However, many researchers rejected the his findings and set about to create studies to support the idea that XYY males tended to be more aggressive. (ihealthdirectory.com)
- 47 XYY syndrome This syndrome occurs in 1:1000 men but is more common among infertile males [15 17 Infertile men with the 47 XYY karyotype are otherwise healthy. (biobender.com)
- While semen analyses of 47 XYY males frequently indicate oligozoospermia or azoospermia the majority of them are fertile with normal semen parameters [16]. (biobender.com)
- Since the symptoms mentioned above are commonly found in males, XYY syndrome goes undiagnosed most of the time. (askapollo.com)
- Males with a normal male karyotype (XY) in some cells may be fertile and have less obvious malformations. (msdmanuals.com)
19612
- In none of these early cases was an XYY karyotype used by the defense but as early as 1961 and Dr Court Brown was suggesting that like the plea for insanity, which had been enshrined as the M'Naghten Rules , XYY should in itself provide extenuating circumstances for criminal behaviour. (blogspot.com)
- The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961. (biomedcentral.com)
Genetic2
- A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. (winetourismday.org)
- Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling. (cdc.gov)
Mosaicism2
- This phenomenon is called 46,XY/47,XYY mosaicism . (medlineplus.gov)
- 46,XY/47,XYY mosaicism is also not inherited. (medlineplus.gov)
Jacob's1
- Other names for Jacob's syndrome are XYY Karyotype, XYY syndrome and YY syndrome. (ihealthdirectory.com)
Phenotypic1
- These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. (biomedcentral.com)
Ascertainment3
- 47,XYY syndrome: clinical phenotype and timing of ascertainment. (medlineplus.gov)
- Early studies suggested that men with acne were also more likely to be XYY but that was soon dismissed as ascertainment bias within a tiny sample. (blogspot.com)
- Neurobehavioral and neurocognitive difficulties tended to become more pronounced with increasing age and were rather robust, independent of specific karyotype, pre/postnatal diagnosis, or ascertainment strategy. (bioscientifica.com)
Severe1
- Severe acne was noted in a very few early case reports, but dermatologists specializing in acne now doubt the existence of a relationship with 47,XYY. (wikipedia.org)
Abnormalities1
- Abnormal ECG, EEG, leg ulcers, genital abnormalities have all been claimed to be more common among XYY men, but the statistical evidence for any of these associations is really no better than for acne. (blogspot.com)
Diagnosis1
- As most people with XYY syndrome do not have any obvious symptoms, the diagnosis is rare. (askapollo.com)
Testosterone2
- Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children. (medlineplus.gov)
- Their testis histology show germ cell degeneration while serum levels of hormones are abnormal with a decline in testosterone level and elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) [12 17 18 The 47 XXY karyotype accounts for nearly 90% of the patients while other variants are rare [17]. (biobender.com)
Patients4
- Some 47,XYY patients have been found to have genitourinary malformations. (wikipedia.org)
- Patients with complex karyotypes constitute 30% of primary MDS cases (only 20% of de novo AML) and up to 50% of therapy-related MDS and AML cases. (medscape.com)
- SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)
- Inability to karyotype some cases at high-risk for SCA, due to patients' choice, and the occurrence of miscarriages and terminations, resulted in the exclusion of high-risk cases when calculating PPV. (medscape.com)
Behavioral2
- Individuals with 47,XYY syndrome have an increased risk of behavioral, social, and emotional difficulties compared with their unaffected peers. (medlineplus.gov)
- We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members ( n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). (biomedcentral.com)
Acne1
- XYY, acne and mass-murder were clagged together with the epithet supermale by a biochemist called Mary Telfer and this 'syndrome' was exhaustively reported in the New York Times in 1968. (blogspot.com)
Turner1
- A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. (viamedica.pl)
Symptoms3
- What are the symptoms of XYY syndrome? (askapollo.com)
- The symptoms of XYY syndrome can vary. (askapollo.com)
- Medication and therapies may help improve the symptoms of XYY syndrome and reduce complications. (askapollo.com)
Disorders2
Male1
- initializes a SexChromosomes object for a normal male karyotype. (cydas.org)
Analysis1
- Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. (biomedcentral.com)
Treatment2
- What is the treatment for XYY syndrome? (askapollo.com)
- XYY syndrome is a lifelong condition that has no treatment. (askapollo.com)
Study3
- The XYY syndrome: a follow-up study on 38 boys. (medlineplus.gov)
- In a systematic review including two prospective studies of 47,XYY boys identified by newborn screening programs and one retrospective study of 47,XYY men identified by screening men over 184 cm (6 ft 1⁄2 in) in height, forty-two 47,XYY boys and men had an average 99.5 verbal IQ and 106.4 performance IQ. (wikipedia.org)
- Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. (viamedica.pl)
Studies4
- In a summary of six prospective studies of 47,XYY boys identified by newborn screening programmes, twenty-eight 47,XYY boys had an average 100.76 verbal IQ, 108.79 performance IQ, and 105.00 full-scale IQ. (wikipedia.org)
- In prospective studies of 47,XYY boys identified by newborn screening programs, the IQ scores of 47,XYY boys were usually slightly lower than those of their siblings. (wikipedia.org)
- According to certain psychological studies, people with XYY syndrome may have problems with impulse control and emotional regulation. (wikipedia.org)
- Studies on the Karyotype Differentiation of the Norway Rat. (go.jp)
Diagnose1
- Post-birth, administering a karyotype or a microarray test on the baby can be used to diagnose XYY syndrome. (askapollo.com)
People2
- People with the 47,XYY karyotype have an increased growth rate from early childhood, with an average final height approximately 7 centimetres (2+3⁄4 in) above expected final height. (wikipedia.org)
- Most people who have XYY syndrome lead productive lives with normal sexual development and fertility. (askapollo.com)
Test1
- Thanks to this, the scope and resolution of the test is comparable to the karyotype from the amniotic fluid (after amniocentesis). (sancotest.pl)
Found2
- Approximately half of 47,XYY boys identified by newborn screening programs had learning difficulties-a higher proportion than found among siblings and above-average-IQ control groups. (wikipedia.org)
- She found the rate of XYY was about 3% in a trawl through 200 inmates which is a statistically significant difference from the prevalence in the general population which is about 0.15% or 20x less. (blogspot.com)
Children2
- Five to 10 children with 47,XYY syndrome are born in the United States each day. (medlineplus.gov)
- In total, 209 children aged 1-7 years were included: 107 children with SCT (33 XXX, 50 XXY, and 24 XYY) and 102 age-matched population controls. (bioscientifica.com)
Similar1
- With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. (viamedica.pl)
History1
- Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. (viamedica.pl)
Boys3
- In Edinburgh, Scotland, eight 47,XYY boys born 1967-1972 and identified in a newborn screening programme had an average height of 188.1 cm (6 ft 2 in) at age 18-their fathers' average height was 174.1 cm (5 ft 8+1⁄2 in), their mothers' average height was 162.8 cm (5 ft 4+1⁄8 in). (wikipedia.org)
- In Edinburgh, fifteen 47,XYY boys with siblings identified in a newborn screening program had an average 104.0 verbal IQ and 106.7 performance IQ, while their siblings had an average 112.9 verbal IQ and 114.6 performance IQ. (wikipedia.org)
- In Edinburgh, 54% of 47,XYY boys (7 of 13) identified in a newborn screening program received remedial reading teaching compared to 18% (4 of 22) in an above-average-IQ control group of 46,XY boys matched by their father's social class. (wikipedia.org)
Risk1
- 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. (medlineplus.gov)
Cell1
- The XYY syndrome is caused due to a random error in the cell division. (askapollo.com)
Resources1
- If you want a sample of XYY men and have limited resources, you might be advised to go to Broadmoor Hospital and pick the tallest men in that Institute. (blogspot.com)