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.

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.

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 ...
XYY karyotypes usually have normal fertility, 48,XYYY appears associated with infertility or sterility. The 47,XYY karyotype is ... In the case of XYYY syndrome, the karyotype may be a result of non-disjunction with an XYY father, or of double non-disjunction ... Robinson DO, Jacobs PA (1 November 1999). "The origin of the extra Y chromosome in males with a 47,XYY karyotype" (PDF). Human ... The much better-understood XYY syndrome occurs in approximately 1 in 1,000 males. XYY syndrome is known to have a milder ...
This makes individuals with XXY and XYY karyotypes males, and individuals with X and XXX karyotypes females. In the 1930s, ... Now in 1959 when the karyotype of Klinefelter [a male who is XXY] and Turner [a female who has one X] syndromes was discovered ...
Sandberg and colleagues in Buffalo, New York published the first report of a man with a 47,XYY karyotype in 1961. He was also ...
While attempts have been made to link the XYY karyotype to violence, including serial murder, research has consistently found ... Speck was erroneously reported to have an extra Y chromosome; in fact, his karyotype was performed twice and was normal each ... Engel, Eric (September 1972). "The making of an XYY". Am J Ment Defic. 77 (2): 123-7. PMID 5081078. Robinson, Arthur; Lubs, ...
... xyy karyotype MeSH C23.550.210.870 - translocation, genetic MeSH C23.550.210.870.680 - philadelphia chromosome MeSH C23.550. ...
... xyy karyotype MeSH G13.920.590.175.870 - translocation, genetic MeSH G13.920.590.175.870.680 - philadelphia chromosome MeSH ...
... and XYY and tetrasomy X in 1961. The 49,XXXYY karyotype was not reported again until 1974, highlighting the rarity of the ... XYY karyotypes blended into the general population and had little unusual propensity for criminality. Despite these advances ... The karyotype observed in the syndrome is formally known as 49,XXXYY, which represents the 49 chromosomes observed in the ... Possible causes include fertilization of a normal egg by an XXYY sperm, fertilization of an XX egg by an XYY sperm, or ...
... between men with XYY karyotypes and those with normal genomes, and that XYY males had been unfairly stigmatized by earlier ... It also identified Speck as a "classic example" of an "XYY criminal" and citing Telfer and Getty as sources, predicted that XYY ... and noted that the karyotype had been cited as a mitigating factor by attorneys defending an XYY man charged with murder in ... Telfer wrote a speculative piece for the British journal Think in which she mistakenly reported that Speck had an XYY karyotype ...
... and increased height was the only characteristic that could be reliably associated with XYY males. The "criminal karyotype" ... XYY syndrome (simply known as XYY syndrome) is caused by the presence of a single extra copy of the Y chromosome in each of a ... 47, XYY males have one X chromosome and two Y chromosomes, for a total of 47 chromosomes per cell. Researchers have found that ... However, it was thought that the loss of Y could also be an effect rather than a cause and/or a "neutral karyotype related to ...
XXX karyotype. Differential diagnosis remains indicated when the phenotype is particularly severe for what a 47,XXX karyotype ... and XYY syndrome The first known case of trisomy X, in a 176 cm (5 ft 9+1⁄2 in) woman who experienced premature ovarian failure ... The most common karyotype in trisomy X is 47,XXX, where all cells have an additional copy of the X chromosome. Mosaicism, where ... Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ...
XXXX karyotype being alongside that of 45,X0, 47,XXY, and 47,XXX in 1959, 48,XXYY in 1960, and 47,XYY the same year. One of the ... Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to ... Pentasomy X, a karyotype of five X chromosomes, is another major differential diagnosis. The phenotype of pentasomy X is ... The formal term for the karyotype observed in tetrasomy X is 48,XXXX, as the condition is typified by a 48-chromosome ...
For instance, a karyotype display of a tissue sample may determine which of the causes of intersex is prevalent in the case. ... Stochholm, Kirstine; Juul, Svend; Gravholt, Claus H (2010). "Diagnosis and mortality in 47,XYY persons: a registry study". ... 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. ... XYY and 47,XXX, and vaginal agenesis. Sax reasons that in these conditions chromosomal sex is consistent with phenotypic sex ...
A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. This is not to ... Polysomy Y (47,XYY; 48,XYYY; 48,XXYY; 49,XXYYY) occurs in 1 out of 975 males and may cause psychiatric, social, and somatic ... Karyotypes are commonly analyzed using Giemsa banding (G-banded karyotyping)). Each chromosome shows unique light and dark ... Spectral karyotyping (SKY) looks at the entire karyotype by using fluorescent labels and assigning a particular color to each ...
47,XYY syndrome on Genetics Home Reference, Other Names. Retrieved 6 August 2017 Sandberg, Avery A.; Koepf, George F.; Ishihara ... XXY karyotype) also known as Klinefelter syndrome, as Harry Klinefelter had already diagnosed the symptoms in 1942. Despite her ... Males with 47,XYY cannot be characterised by discriminating physical or behavioural features. The first diagnosis of this ... Hauschka, Theodore S.; Hasson, John E.; Goldstein, Milton N.; Koepf, George F.; Sandberg, Avery A. (March 1962). "An XYY man ...
This karyotype was found in a 24-year-old man who had signs of KS. Jacobs described her discovery of this first reported human ... Abramsky L, Chapple J (April 1997). "47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal ... KS is diagnosed by the genetic test known as a karyotype. While no cure is known, a number of treatments may help. Physical ... The first published report of a man with a 47,XXY karyotype was by Patricia Jacobs and John Strong at Western General Hospital ...
Chromosome abnormalities Aneuploidy Karyotype Sexual reproduction Monosomy "CRC - Glossary T". Archived from the original on ... Trisomy of sex chromosomes can also occur and include: XXX (Triple X syndrome) XXY (Klinefelter syndrome) XYY (Jacobs syndrome ...
XYY syndrome. XYY boys are usually taller than their siblings. Like XXY boys and XXX girls, they are more likely to have ... Also, variation in karyotype may occur during development from the fertilized egg. The technique of determining the karyotype ... the karyotype is the characteristic chromosome complement of a eukaryote species. The preparation and study of karyotypes is ... Gill BS, Kimber G (April 1974). "The Giemsa C-banded karyotype of rye". Proceedings of the National Academy of Sciences of the ...
"Karyotyping". National Institute of Health. Retrieved 7 May 2014. Montag, M; van der Ven, K; Rösing, B; van der Ven, H (2009 ... The incidence of XYY syndrome is approximately 1 in 800-1000 male births. Many cases remain undiagnosed because of their normal ... Karyotyping involves performing an amniocentesis in order to study the cells of an unborn fetus during metaphase 1. Light ... karyotype 45, X0) are spontaneously aborted. The term autosomal trisomy means that a chromosome other than the sex chromosomes ...
Mosaic karyotypes, with both 48,XXXX and 49,XXXXX cells, are also possible. Though very few mosaic cases have been reported, ... doi:10.1016/S0140-6736(60)91624-X. Sandberg AA, Koepf GF, Ishihara T, Hauschka TS (26 August 1961). "An XYY human male". Lancet ... The karyotype observed in pentasomy X is formally known as 49,XXXXX, which represents the 49 chromosomes observed in the ... Pentasomy X was first diagnosed in 1963, in a two-year-old girl karyotyped for severe intellectual disability. At the time, ...
X0 karyotypes to have an average height of 145 cm (4 ft 9 in), while those with 45,X0/46,XX karyotypes averaged 159 cm (5 ft 2+ ... It was found in a 14-year-old girl with signs of Turner syndrome.[citation needed] Other human sex chromosome aneuploids: XYY ... The risk of diabetes in Turner syndrome varies by karyotype and appears to be raised by specific deletions of the short arm of ... The first published report of a female with a 45,X karyotype was in 1959 by Charles Ford and colleagues in Harwell near Oxford ...
... discovered XYY in 1961, expert on chromosomes in cancer Lodewijk A. Sandkuijl (1953-2002), Dutch expert on genetic epidemiology ... karyotype-phenotype correlations Werner Schmid (1930-2002), Swiss pioneer in human cytogenetics, described cat eye syndrome ... French pioneer of clinical cytogenetics and karyotype-phenotype correlation Hans Grüneberg (1907-1982), British mouse ...
XYY syndrome XYYY syndrome While some writers suggest intellectual disability is moderate to severe, this has not been recorded ... Findings associated with the karyotype include hypertelorism (wide-spaced eyes), low-set ears, radioulnar synostosis (fusion of ...
A ratio Xenograft XYY XYY syndrome Y chromosome Y linkage Y linked Y-chromosomal Aaron Y-chromosomal Adam YAC Y-chromosome ... Fixed allele Fixed breakage point Flow cytometry Flow karyotyping Fluctuation test Fluorescent in situ hybridization FMET Focus ... Species Specific-locus test Spectral karyotype Sperm Spermatid Spermatocyte Spermatogenesis Spermatogonium Spermatozoon ... tRNA Isochromosome Isoenzyme Isoschizomer Isotope Isozyme Junk DNA Kappa particle Kartagener's syndrome Karyokinesis Karyotype ...
Yoshimura A (2005). "Karyotypes of two American field crickets: Gryllus rubens and Gryllus sp. (Orthoptera: Gryllidae)". ... However, individuals with XXY or XYY are males, while individuals with X and XXX are females. Unusually, the platypus, a ... In the nematode Caenorhabditis elegans, most worms are self-fertilizing hermaphrodites with an XX karyotype, but occasional ...
Cytotaxonomy Karyotype Molecular cytogenetics Ploidy Virtual karyotype Rieger, R.; Michaelis, A.; Green, M.M. (1968), A ... Many other sex chromosome combinations are compatible with live birth including XXX, XYY, and XXXX. The ability for mammals to ... the karyotype) was the carrier of the genes. Levitsky seems to have been the first to define the karyotype as the phenotypic ... It took until 1956 for it to be generally accepted that the karyotype of man included only 46 chromosomes. The great apes have ...
47, XYY Karyotype and Borderline Personality Disorder: An Italian Judicial Case and a Review of the Literature Jutta M Birkhoff ... Infantile autism and 47, XYY karyotype.. *Schiavi RC, Theilgaard A, Owen DR, While D (1984) Sex chromosome anomalies, hormones ... The Judge of an Italian Court disposed for an expertise on a young man afflicted by 47,XYY karyotype and Borderline Personality ... Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA (2009) Infantile autism and 47, XYY karyotype. ArqNeuro-Psiquiat 67: ...
XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal ... The origin of the extra Y chromosome in males with a 47,XYY karyotype D O Robinson et al. Hum Mol Genet. 1999 Nov. ... The origin of the extra Y chromosome in males with a 47,XYY karyotype D O Robinson 1 , P A Jacobs ... The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in ...
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 ...
8. XYY Karyotype, trisomy, chromosome breakage. Incorrect.Correct.. 9. blinking, gagging, startle reaction ...
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 ...
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 ...
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 ...
A patient with 46,XY/47,XYY karyotype and female phenotype: a case report. March 24, 2020 ...
XYY, especially in the left hemisphere. Further, the typical association between GABA and testosterone levels, observed in ... older typically developing control boys was not evident in boys with 47,XYY. ... XYY Karyotype / diagnostic imaging Actions. * Search in PubMed * Search in MeSH * Add to Search ... Background: 47,XYY syndrome (XYY) is a male sex chromosome disorder where subjects have one X chromosome and two copies of the ...
... producing the 47.XYY karyotype. Throughout history, some scientists have fervently defended the notion, without being able to ...
XYY Karyotype 1 0 Premature Birth 1 0 Note: The number of publications displayed in this table will differ from the number ...
E1.370.225.875.985 XYY Karyotype C23.550.210.24.500 G5.360.162.679.500.500 G5.365.590.175.24.500 Zineb D1.632.975 SQL> spool ... E5.200.998 Spectral Karyotyping E1.370.225.500.385.315.800 E5.200.500.385.315.800 E5.242.385.315.800 Sperm Count E1.450.752.624 ... E5.242.384.467 Karyotyping E1.370.225.500.385.315 E5.200.500.385.315 E5.242.385.315 Ketolides D4.345.349.250.445 D9.408.477.250 ...
... features and even his dental problems have led to the suggestion he had a syndrome associated with an XYY chromosome karyotype ... A geneticist concludes, however, although there does seem to be a strong case that George Washington was affected with XYY ... which is associated with an XXY karyotype. At least one historian believes that Martha was the cause of the marriages ...
XYY Karyotype XYY Karyotypes use XYY Karyotype ...
Karyotype [G05.360.162.679] * Abnormal Karyotype [G05.360.162.679.500] * XYY Karyotype [G05.360.162.679.500.500] ... XYY Karyotype Preferred Term Term UI T043777. Date01/01/1999. LexicalTag NON. ThesaurusID ... XYY Karyotype Preferred Concept UI. M0023079. Scope Note. Abnormal genetic constitution in males characterized by an extra Y ... XYY Karyotype. Tree Number(s). C23.550.210.024.500. C23.550.210.815.970. G05.360.162.679.500.500. G05.365.590.175.024.500. ...
Karyotype [G05.360.162.679] * Abnormal Karyotype [G05.360.162.679.500] * XYY Karyotype [G05.360.162.679.500.500] ... XYY Karyotype Preferred Term Term UI T043777. Date01/01/1999. LexicalTag NON. ThesaurusID ... XYY Karyotype Preferred Concept UI. M0023079. Scope Note. Abnormal genetic constitution in males characterized by an extra Y ... XYY Karyotype. Tree Number(s). C23.550.210.024.500. C23.550.210.815.970. G05.360.162.679.500.500. G05.365.590.175.024.500. ...
Sex chromosome aneuploidy as determined by karyotype (including XXX, XXXX, XXXXX, XXY, XXYY, XXXY, XXXXY, XYY). --ICD-10 ...
XYY Karyotype XYY Karyotypes use XYY Karyotype ...
XYY karyotype; testicular disorders of sex development, such as XX males; structural chromosome rearrangements, including ...
Q98.5 핵형 47, XYY(Karyotype 47, XYY) Q98.6 구조적 비정상 성염색체를 가진 남성(Male with structurally abnormal sex chromosome) Q98.7 성염색체 모자이키즘을 ... karyotype 〔k´æri∂t`aip〕 핵형 [위키] 핵형 Karyotype [百] 핵형분석 (核型分析) karyotype analysis [百] 핵형 (核型) karyotype [生] Karyotype (핵형) (核型) ... Q96.0 핵형 45, X(Karyotype 45, X) Q96.1 핵형 46, X동인자형(Xq)(Karyotype 46, X iso(Xq)) Q96.2 동인자(Xq)를 제외한 비정상 성염색체를 가진 핵형 46,X( ... karyotype. 다른 곳에서 찾기 네이버사전 다음사전 Cambridge M-W M-W Thesaurus OneLook Google. ...
A study looking for the prevalence of the XYY karyotype (falsely believed to be associated with violence) among black boys lied ...
The normal female karyotype is written as 46, XX, and the normal male karyotype is 46, XY. How many chromosomes are in the ... female karyotype? Girls and women usually have two X chromosomes (karyotype ... The picture of all 46 chromosomes in their pairs is called a karyotype. ... How many chromosomes are there in a karyotype? ... XYY karyotype, or YY syndrome. According to the National ...
This condition is also sometimes called Jacobs syndrome, XYY karyotype, or YY syndrome. ... Males with XYY syndrome have 47 chromosomes because of the extra Y chromosome. ... which in turn has been the karyotype signal of the testes. ...
Other chromosomal abnormalities: These result in testicular hypofunction; they include the 46,XY/XO and the 47,XYY karyotypes. ... A nonmosaic 45,X karyotype in a mother with Turners syndrome and in her daughter. Fertil Steril. 2004 Oct. 82(4):923-5. [QxMD ... Peripheral leukocyte karyotype: This is obtained in men with congenital primary hypogonadism to determine if Klinefelter ... If the diagnosis of ovarian failure is confirmed in patients younger than 30 years, a karyotype evaluation should be performed ...
The karyotype is 69-XXX, 69-XXY or 69-XYY.. Mosaic Triploidy:. In the very rare mosaic triploidy, three sets of chromosomes are ... The karyotype, i.e. the chromosomal makeup of the baby, is then 69-XXX or 69-XXY. The karyotype of healthy people is 46-XX for ... The karyotype is either 69-XXX or 69-XXY.. Digynia (Type II):. In digynia, the supernumerary set of chromosomes originates from ... Genetic Basis: Chromosome Makeup And Karyotype Of Babies With Triploidy. *How Likely Is It To Give Birth To A Child With ...
Klinefelters syndrome is characterised by a karyotype of. (a) XYY. (b) XO. (c) XXX. (d) XXY. Answer:. (d) XXY ... Conditions of a karyotype 2n±l and 2n + 2 are called. (a) aneuploidy. (b) polyploidy. (c) allopolyploidy. (d) monosomy.. Answer ...
During the 1960s and 1970s, there was a popular thought that the abnormal XYY karyotype (where a male carries an extra Y ... In addition, the only males used in these studies with the XYY karyotype were already incarcerated. There were no ... the only trait that was conclusively found consistent in the XYY karyotype were that these men tended to be taller than the ... scientists imposing links between actual physical traits and criminal behaviour they claimed was rooted in their XYY karyotype ...
In most cases, a 47, XYY karyotype is found, and in rare cases... ... XYY syndrome has an incidence of approximately 1:1,000 in male ... In most cases, a 47, XYY karyotype is found, and in rare cases, X and Y polysomies. Characteristically, patients show increased ... Scientific studies have shown that boys and men with an XYY pattern who are in a stable familial environment are not more ... Double Y syndrome or 47, XYY syndrome has an incidence of approximately 1:1,000 in male newborns. ...
Kessler, S. and R. H. Moos, "The XYY Karyotype end Criminality: A Review," JOURNAL OF PSYCHIATRIC RESEARCH, vol. 7, pp. 153-170 ...
  • and other cells have one X chromosome and two Y chromosomes (47,XYY). (medlineplus.gov)
  • There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. (wikipedia.org)
  • How many chromosomes are present in a karyotype? (bizzieme.com)
  • How many chromosomes are there in a karyotype? (bizzieme.com)
  • The picture of all 46 chromosomes in their pairs is called a karyotype. (bizzieme.com)
  • How many chromosomes are in the female karyotype? (bizzieme.com)
  • Girls and women usually have two X chromosomes (karyotype 46, XX), while boys and men usually have one X chromosome and one Y chromosome (46, XY karyotype). (bizzieme.com)
  • What are the chromosomes in the karyotype? (bizzieme.com)
  • A karyotype is simply a picture of a person's chromosomes. (bizzieme.com)
  • Abnormal karyotype test results may mean that you or your child has abnormal chromosomes. (bizzieme.com)
  • Why do we need a karyotype of chromosomes? (bizzieme.com)
  • Examination of chromosomes by karyotyping allows your doctor to determine if there are any structural abnormalities or problems within the chromosomes. (bizzieme.com)
  • The karyotype is the set of individual chromosomes. (bizzieme.com)
  • Karyotyping is used to look for abnormal numbers or structures of chromosomes. (bizzieme.com)
  • Males with XYY syndrome have 47 chromosomes due to the extra Y chromosome. (bizzieme.com)
  • Males with XYY syndrome have 47 chromosomes because of the extra Y chromosome. (wise-answer.com)
  • The term karyotype refers to the number and type of chromosomes present in an individual, and karyogram is now often used to designate the printed display of chromosomes. (basicmedicalkey.com)
  • A karyotype, or karyogram, is a display of chromosomes ordered according to length. (basicmedicalkey.com)
  • Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype , or full set of chromosomes, to a typical karyotype for the species via genetic testing . (wikipedia.org)
  • A human karyotype reveals the entire gang of human chromosomes. (tbteam.it)
  • During the an effective karyotype, there are twenty-two pairs out-of autosomes or low-sex chromosomes and something collection of gender chromosomes. (tbteam.it)
  • Her physician orders a routine karyotype that shows 46 chromosomes with extra material on one homolog of the chromosome 5 pair. (medquizzes.net)
  • The karyotype, i.e. the chromosomal makeup of the baby, is then 69-XXX or 69-XXY. (practicalmommy.com)
  • Fluorescence in situ hybridization (FISH) and chromosomal karyotyping were carried out for such children. (bvsalud.org)
  • The eponym Down syndrome summarizes a clinical description of certain distinctive, if variable, phenotypic features whereas the karyotype describes the chromosomal constitution of the cells and tissues studied. (aao.org)
  • A chromosomal karyotyping revealed a 47, XXY, confirming the diagnosis of KS. (prelekara.sk)
  • In this context forensic psychiatrists were required to express opinions about a young Italian man afflicted by 47,XYY karyotype (Jacobs' Syndrome) and Borderline Personality Disorder who had frequent violent behaviors against his relatives, being therefore accused of "abuse against family members or partners" (art. (omicsonline.org)
  • In particular, the XYY chromosome abnormality, also called Jacobs' Syndrome, was deeply studied because many researchers in the last fifty years have tried to find a link between this syndrome and violent and/or dysfunctional behavior. (omicsonline.org)
  • 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. (medlineplus.gov)
  • 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)
  • 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. (medlineplus.gov)
  • Individuals with 47,XYY syndrome have an increased risk of behavioral, social, and emotional difficulties compared with their unaffected peers. (medlineplus.gov)
  • Five to 10 children with 47,XYY syndrome are born in the United States each day. (medlineplus.gov)
  • Some people with 47,XYY syndrome have an extra Y chromosome in only some of their cells. (medlineplus.gov)
  • 47,XYY syndrome is not inherited. (medlineplus.gov)
  • 47,XYY syndrome: clinical phenotype and timing of ascertainment. (medlineplus.gov)
  • The XYY syndrome: a follow-up study on 38 boys. (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)
  • 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)
  • According to certain psychological studies, people with XYY syndrome may have problems with impulse control and emotional regulation. (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)
  • 47,XYY syndrome (XYY) is a male sex chromosome disorder where subjects have one X chromosome and two copies of the Y chromosome. (nih.gov)
  • Given the male preponderance in the prevalence of ASD, the unique presence of the Y chromosome in males leads to the intriguing possibility of investigating boys with XYY syndrome as a model of excess Y-chromosome genes. (nih.gov)
  • In this study, we investigated the associations of genotype and clinical phenotype with levels of GABA, estimated by regionally localized edited magnetic resonance spectroscopy in boys with 47, XYY syndrome compared to age-matched typically developing (XY) peers. (nih.gov)
  • Washington's height, sterility, large hands, pockmarks, plus certain personality features and even his dental problems have led to the suggestion he had a syndrome associated with an XYY chromosome karyotype 4b . (doctorzebra.com)
  • A geneticist concludes, however, 'although there does seem to be a strong case that George Washington was affected with XYY syndrome, the evidence is just not conclusive' 4a . (doctorzebra.com)
  • There are also speculations 5 -- dismissed by some 6 -- that Washington had Klinefelter syndrome, which is associated with an XXY karyotype. (doctorzebra.com)
  • XYY Syndrome A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. (nih.gov)
  • This condition is sometimes called Jacob syndrome, XYY karyotype, or YY syndrome. (bizzieme.com)
  • According to the National Institutes of Health, XYY syndrome occurs in 1 in 1,000 boys. (bizzieme.com)
  • This condition is also sometimes called Jacob's syndrome, XYY karyotype, or YY syndrome. (wise-answer.com)
  • Double Y syndrome or 47, XYY syndrome has an incidence of approximately 1:1,000 in male newborns. (medicover-genetics.com)
  • There were 327 cases (77.30%) with Turner syndrome and a 45,X karyotype or its mosaicism. (bvsalud.org)
  • Sixty-two children (14.66%) had a 47,XXY karyotype or its mosaicism, and showed characteristics of Klinefelter syndrome (KS) including cryptorchidism, buried penis and hypospadia. (bvsalud.org)
  • The remainder 15 cases (3.55%) included 9 children with a XYY karyotype or mosaicisms, with main clinical manifestations including cryptorchidisms and hypospadia, 4 children with a 47,XXX karyotype and clinical manifestations including short stature and labial adhesion, 1 child with a 46,XX/46,XY karyotype and clinical manifestations including micropenis, hypospadia, syndactyly and polydactyly, and 1 case with XXXX syndrome and clinical manifestations including growth retardation. (bvsalud.org)
  • I won't go into all the 13 different karyotypes, but I would like to talk a little about "The most severe variant of Klinefelter's syndrome 49,XXXXY. (klinefeltersyndrome.org)
  • Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. (nih.gov)
  • A karyotype of an individual with trisomy 21 , showing three copies of chromosome 21. (wikipedia.org)
  • XYY is associated with a physical phenotype and carries increased risk of neurodevelopmental disorders such as autism spectrum disorder (ASD). (nih.gov)
  • The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. (nih.gov)
  • It is possible to distinguish between the different mechanisms of non-disjunction by analysing DNA polymorphisms at the distal tip of the Xp/Yp pseudoautosomal region in 47,XYY males, their parents and in some cases paternal grandparents. (nih.gov)
  • A cohort of 28 non-mosaic 47,XYY males was analysed. (nih.gov)
  • 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)
  • Offspring of XYY males have no increased risk of gonosomal aneuploidies. (medicover-genetics.com)
  • 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)
  • The normal female karyotype is written as 46, XX, and the normal male karyotype is 46, XY. (bizzieme.com)
  • Over a long period sex determination, and, specifically, male sex determination, has been correlated to the presence of the Y chromosome, which in turn has been the karyotype signal of the testes. (wise-answer.com)
  • A banded karyogram (karyotype) of a normal male. (basicmedicalkey.com)
  • Amniocentesis (removal of amniotic fluid containing fetal cells is obtained) or chorionic villi biopsy (remove some of fringe around embryo) permit sampling of fetal tissue to determine karyotype and other genetic conditions. (csbsju.edu)
  • Scientific studies have shown that boys and men with an XYY pattern who are in a stable familial environment are not more likely to develop behavioral problems than others. (medicover-genetics.com)
  • The legacy karyotype description shown in this Remark may not be representative of the current available product. (coriell.org)
  • 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)
  • Some 47,XYY patients have been found to have genitourinary malformations. (wikipedia.org)
  • 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 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)
  • 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)
  • Cytogenetic studies showed a 46,XX karyotype. (bmj.com)
  • 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)
  • 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)
  • A karyotype is used to determine the chromosome composition of an individual. (csbsju.edu)
  • 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)
  • The karyotype of healthy people is 46-XX for women and 46-XY for men. (practicalmommy.com)
  • The judge seemed to believe that the genetic condition had determined the behavior of the subject and, since it is a constitutional requirement and cannot be cured, then this karyotype would make the man always socially dangerous. (omicsonline.org)
  • 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)