The official parents sourcebook on klinefelter syndrome. Among the disorders of sexual development, klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. The book contains about 50% detail on how to look up medical journals to do your own research. Males are severely intellectually challenged iq range 2060. Xxyy is still considered a variation of klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, xxy, and the most current research does not suggest that there should monsterologist.
Both of these things seem to fit into the definition of being intersex that i can find. Having this extra x chromosome can cause abnormalities such as smaller testicles, little body hair, and most likely will cause a male to not be able to reproduce matthews. Any variant of this is called a sex chromosome abnormality. The same website has a page on 47,xxy klinefelter syndrome as well that also kind of, all be it more subtly implies that some xxy males are not intersex. Two of the 46 chromosomes, known as x and y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Most often, boys and men with klinefelter syndrome have the usual x and y. Girls who are born with an extra x chromosome are referred to as having triple x or trisomy x. Clinical and behavioural profile of a rare variant of klinefelter. Klinefelters syndrome is a sex chromosomal aneuploidy caused by an addition of x chromosome in males 47, xxy. In 1959 and 1960, additional klinefelter s variants were described after the identification of more than one barr body on buccal smears. Boys who are born with an extra x chromosome have 47,xxy, also known as klinefelter syndrome.
The small number of patients found to have this variant xxyy does not permit a clinical basis for distinguishing it from the more common xxy form of the kline felter syndrome. Only 25 to 50 percent of patients with klinefelter syndrome are diagnosed during their lifetimes. I bought this book hoping to find some current information on klinefelters syndrome as the book is titled a source book but here is where my understanding was incorrect. Xxyy syndrome occurs in approximately 118,000 male births. April 9, 2011 sex chromosome tetrasomy and pentasomy conditions occur in 1.
Pmid29022558 klinefelter syndrome ks is the most common 15001 chromosomal disorder in males, but only 10% of cases are identified in childhood. Apart from normal interindividual genetic variation, several genetic. Novel genetic aspects of klinefelters syndrome molecular human. Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a 47,xxy karyotype. Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a 47, xxy karyotype. About 20% are variants which include 48, xxyy, 48,xxxy, 49,xxxxy syndromes and. Mar 15, 2020 tartaglia n, ayari n, howell s, depagnier c, zeitler p. Klinefelter syndrome mesh descriptor data 2021 mesh. We aim to increase awareness and inform the health and education sectors and broader community. Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics.
Taking into consideration the findings in xyy and xxxyy. Axys is pleased to make this book available to the x and y variation. Patients have short stature and are microcephalic with dysmorphic facial features ocular hypertelorism, epicanthal. The syndrome can affect different stages of physical, language and social development. Klinefelter syndrome is the most common sex chromosome disorder in males. Klinefelters syndrome i will call it ks for short most common form within males is known by its label 47,xxy. These patients, together with five xxyy subjects recorded in the literature, show the clinical features of klinefelter s syndrome. Its seeming rarity may be ascribed to the subtleties of clinical manifestation in a prepubertal boy rather than dieulty in establishing the diagnosis once suspected. The syndrome was originally considered a variation of klinefelter syndrome, and xxyy is still considered a variation of klinefelter syndrome by some definitions because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, xxy, and the most current research does not suggest that there should be any. An xxyy variant of the klinefelter syndrome in a prepubertal boy is described. Klinefelter syndrome harvard catalyst profiles harvard. Because they often dont make as much of the male hormone testosterone as other boys, teenagers with. Klinefelter syndrome klinefelter syndrome is a descriptor in the national library of medicines controlled vocabulary thesaurus, mesh medical subject headings.
The most common variations involve a trisomy, which means three sex chromosomes instead of the typical two. Klinefelter syndrome xxy, xyy, xxx, xxyy, xxxy, xxxxy and associated variants. Klinefelter syndrome ontology report rat genome database. An x ovum fertilized by an xyy sperm arising from successive nondisjunction in. The prevalence of klinefelter syndrome is approximately 1 to 2. Klinefelter syndrome variants visootsak and graham 2006. Kotzot division for human genetics, department for medical genetics, molecular and clinical pharmacology, innsbruck medical university, innsbruck, austria klinefelter syndrome xxy describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. It has an incidence of 118 000 to 150000 male births. What are common symptoms of klinefelter syndrome ks. An xxyy variant of the klinefelter syndrome in a prepubertal. Is it useful to modify the care of klinefelter s syndrome to improve the chances of paternity. Men with klinefelter syndrome mosaicism are often fertile and can father a child through modern technology. The section of the book is titled klinefelter syndrome. Xxyy syndrome is the name attached to the cluster of symptoms that arise as a result of the 48, xxyy chromosome pattern.
Tartaglia t, wilson r, miller j, rafalko j, cordeiro l, davis s, hessl d, ross j. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of. It is a post onset of puberty disease known as hypogonadism. The first study of a 47,x,ixq,y male was reported in 1969 zang et al. Oct 21, 2007 klinefelter s syndrome is a condition that occurs in men who have an extra x chromosome in most of their cells. Klinefelter syndrome an overview sciencedirect topics. For a long time 48, xxyy syndrome was considered as a variant of klinefelter syndrome, but nowadays it is treated as a distinct disorder. In this paper, we describe the occurrence of autistic features in two cases of klinefelter syndrome, one with the typical xxy karyotype and the other with the xxyy variant. Xxyy syndrome xxyy syndrome is a sex chromosome anomaly. Variants of klinefelter syndrome such as 48, xxxy, 49, xxxxy are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns.
Pdf cleft palate in a rare case of variant klinefelter. Klinefelter syndrome ks describes the phenotype of the most common sex. Klinefelter syndrome definition, symptoms, treatment. Axys the association for x and y chromosome variations. Patients typically have intellectual challenges iq range 6080, delayed speech, learning disabilities. What are the genetic variants of klinefelter syndrome. Chromosomal variants amongst xxy klinefelter syndrome. Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity. Individuals with 48, xxyy are usually considerably tall with small testes that do not function normally leading to. Chromosomal variants in klinefelter syndrome abstract sexual. Klinefelter patients with an additional isochromosome xq the prevalence of the klinefelter variant with an additional isochromosome xq is calculated to be between 0. When in 1942 harry klinefelter and his colleagues described the condition carrying his name 1, its aetiology was unknown.
Expanding the phenotype and identifying new research directions. Klinefelters syndrome is a disease some xxys can get. Living with klinefelter syndrome 47, xxy trisomy x 47, xxx and 47. Klinefelter syndrome ks describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. Klinefelter syndrome a medical dictionary, bibliography. The xxyy variant of klinefelters syndrome ncbi nih. Klinefelters syndrome xxy by morgan peppe the xxy project. Chromosomal variants in klinefelter syndrome fulltext sexual. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal. Movva s, kumar m, najeeb s, murthy ps, sreelatha k, hasan q. It results from an unequal sharing of sex chromosomes soon after fertilization.
Females have two x chromosomes 46,xx, and males have one x and one y chromosome 46,xy. Its seeming rarity may be ascribed to the subtleties of clinical manifestation in a prepubertal boy rather than difficulty in establishing the diagnosis once suspected. Klinefelters syndrome from a disabling condition to a variant of. The book also offers a glimpse into the various aspects of klinefelters syndrome. Autism spectrum disorder in males with sex chromosome. Klinefelter syndrome symptoms and causes mayo clinic. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body. Occurrence of klinefelter syndrome mosaic 45, x46, xy47, xxy48. Klinefelter syndrome mesh descriptor data 2021 mesh qualifier.
Two of the 46 chromosomes, known as x and y, are called sex chromosomes because they help determine whether a person will develop male or. The most common sex chromosomal aneuploidy in males is klinefelter syndrome, with the prevalence of 1. Klinefelter s syndrome is a condition that occurs in men who have an extra x chromosome in most of their cells. Books the association for x and y chromosome variations. Ever since, diagnosing klinefelters syndrome has required the demonstration of the 47,xxy karyotype or one of its rare variants. Dec 06, 2012 klinefelter s syndrome occurs relatively frequently, being diagnosed for one in 600 male infants, yet it is probably very rare that it is recognized early enough to make effective treatment possible. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. It is estimated that 1 in every 500 to 1,000 newborn males has an extra x chromosome, making klinefelter syndrome one of the most common chromosomal disorders seen among newborns. Nondisjunction of sex chromosomes during maternal meiosis 53% or paternal meiosis 47% results in 47,xxy genotype classically, although variants such as xxyy, xxxy, and xxxxy, and mosaic patterns, such as xxxxy, also exist. It is assumed xxy boys before the age of puberty have klinefelters syndrome, but in fact they dont, theyre not hypogonadal. Its kinda confusing because it has allot of similarities to klinefelter syndrome, which is intersex. Variant klinefelter syndrome with 48,xxxy46,xy mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. Seminoma of the testis in a patient with 48, xxyy variant of klinefelter s syndrome. The primary features are infertility and small poorly functioning testicles.
This book presents the latest insights into all the critical aspects of klinefelters syndrome, in order to promote a more homogeneous a medical approach to this. Klinefelter syndrome ks is a genetic condition resulting from an additional x chromosome in phenotypic males 47. Often the person afflicted does not go to a doctor until physical and emotional disturbances have developed on the ba sis of the syndrome. Learn more about the causes, symptoms, and treatment of klinefelter syndrome. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. Aug 09, 2019 an example of a difference caused by numerical variations is klinefelters syndrome also known as 47xxy, where sex along with the severity of symptoms varies amongst individuals, typical symptoms include sterility, dysfunctional gonads, learning difficulties and poor muscle tone hypotonia in infancy. Three males with an xxyy sex chromosome complex are described. A new chromosome constitution in klinefelter s syndrome, lancet 2. The typical symptoms are a tall stature, narrow shoulders. Apart from that, various other karyotypes have been described, including 46,xx in. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. In very rare cases of klinefelter syndrome boys experience more serious variants, including 48, xxyy. Individuals with 48,xxyy are usually considerably tall with small testes that do not function normally leading to infertility.
Swedish language only xxyhb2\ for adult people, born with xxy or variant, more commonly known as klinefelter syndrome, who are also homosexual, bisexual, int. Aug, 2002 i bought this book hoping to find some current information on klinefelters syndrome as the book is titled a source book but here is where my understanding was incorrect. And boys who are born with an extra y chromosome have 47,xyy, occasionally referred to as jacobs. And klinefelter s syndrome, which is the symptoms of low testosterone in xxy and variant males, called seminiferous tubule dysgenesis, has nothing at all to do with anything but hypogonadism. Cleft palate in a rare case of variant klinefelter syndrome. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. International support forums for klinefelter syndrome \ our mission is to provide the means for all of us with klinefelter syndrome, xxy, and variants to interact with one. While often compared with 47,xxy klinefelter syndrome. Chromosomal variants in klinefelter syndrome researchgate.
Living with klinefelter syndrome 47,xxy trisomy x 47, xxx and 47. Interviewer proteinprotein interactions gviewer genome viewer variant visualizer damaging variants gene annotator annotation comparison unavailable. In addition to the classic karyotype, klinefelter s syndrome can result from mosaic patterns of expression in which some tissues express a 46,xy karyotype and others express a 47,xxy karyotype. Klinefelter syndrome intersex society of north america. Taking into consideration the findings in xyy and xxxyy individuals, it appears that the addition of a y chromosome to xy, xxy and xxxy complexes has a. Subsequently the diagnosis of klinefelter syndrome has required the demonstration of the 47,xxy karyotype or one of its rarer variants. The most widespread karyotype in affected patients is 47,xxy. Often, symptoms are subtle and subjects do not realize they are affected. The ks story has been compiled by a person with klinefelters syndrome karyotype. Klinefelter syndrome ks, also known as 47,xxy is the set of symptoms that result from two or more x chromosomes in males. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra x chromosome in cells. Chromosome klinefelter syndrome sex chromosome abnormalities. May 07, 2012 48, xxyy syndrome is a chromosomal condition, characterized by the presence of an extra x and y chromosome in males, that causes medical and behavioral problems.
Klinefelter syndrome advantages and disadvantages bartleby. Originally described as a variant of klinefelter syndrome xxy because of shared features of tall stature and hypogonadism,22 it is now recognized that xxyy is associated with more significant cognitive deficits and behavioral disorders, as well as a higher rate of. Entry version abbreviation entry terms 48, xxyy syndrome add 49,xxxxy syndrome add klinefelter syndrome add klinefelter syndrome, variants add klinefelter s syndrome add. First, you will not waste time searching the internet while missing a lot of relevant information. Apr, 2004 the book is designed for physicians, medical students preparing for board examinations, medical researchers, and patients who want to become familiar with research dedicated to klinefelter syndrome.
Klinefelter syndrome is a descriptor in the national library of medicines controlled vocabulary thesaurus, mesh medical subject headings. Autistic features may be more common in persons with klinefelter syndrome than generally believed. Klinefelter s syndrome occurs relatively frequently, being diagnosed for one in 600 male infants, yet it is probably very rare that it is recognized early enough to make effective treatment possible. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an earl. Nov 22, 2018 great intro from morgan, totally unlike the usual virilisation testosterone videos that xxys seem compelled to share, morgans approach offers humour where none previously existed it also highlights the realities of subjecting oneself to the standard treatment of testosterone and how it might make the individual present more male like,though unfortunately for those who identify their. Klinefelter syndrome variants sex chromosome aneuploidies variants of klinefelter syndrome are as follows 32 33. Klinefelters syndrome ks is the most common chromosome. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Xxy klinefelter syndrome, xyy, and xxyy, journal of developmentalbehavioral pediatrics, april 2017, 383. Matthews titled learning disabilities sourcebook, second edition.
In 1959 jacobs and strong 2 recognized the chromosomal basis of the disorder, until then solely defined through a set of clinical criteria. Autism spectrum disorders in males with sex chromosome aneuploidy. The 48, xxyy syndrome represents a chromosomal aneuploidy which consists in the presence of an extra x and y chromosome in males. Chromosomal variants in klinefelter syndrome stony brook.
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