These may include being taller than average, acne, and an increased risk of learning problems. There were 2,029,000 deliveries in the cohort, including 52 women with prenatally diagnosed 47, xxy. We are very grateful to them all for sharing their stories. The typical symptoms are a tall stature, narrow shoulders, broad hips,sparse body hair,gynecomastia, small testes, absent spermatogenesis. Lyon 19252014 recent advances in managing and understanding klinefelter syndrome. Living with klinefelter syndrome 47,xxy trisomy x 47. Difficult intubation if cervical spine mobility is limited. Living with klinefelter syndrome, trisomy x, and 47, xyy. The most widespread karyotype in affected patients is 47,xxy. When you have a rarer variant, it is important for us to be able to seek validation from others. This genetic disorder occurs when a male is born with an extra copy of the x.
One extra copy of the x chromosome in each cell xxy, the most common cause an extra x chromosome in some of the cells mosaic klinefelter syndrome, with fewer symptoms more than one extra copy of the x chromosome, which is rare and results in a severe form extra copies of genes on the x chromosome can interfere with male sexual. These surprisingly common genetic conditions, affecting 1 in 500 individuals, include klinefelter syndrome, trisomy x and 47,xyy. Check out these bestsellers and special offers on books and newsletters from mayo clinic. Nondisjunction of sex chromosomes during maternal meiosis 53% or paternal meiosis 47% results in 47,xxy genotype classically, although variants such as. Klinefelter syndrome ks is the result of 2 or more x chromosomes in a phenotypic male. This article has been cited by other articles in pmc. Living with klinefelter syndrome 47, xxy trisomy x 47, xxx and 47, xyy. The primary features are infertility and small testicles. Klinefelter syndrome ks describes the phenotype of the most common sex. Bharucha in 80% of the cases, the karyotype in klinefelter syndrome is 47 xxy. These patients, together with five xxyy subjects recorded in the literature, show the clinical features of klinefelter s syndrome. The person is generally otherwise normal, including normal fertility the condition is generally not inherited from a persons parents but rather occurs as a result of a random event during.
The 48,xxyy syndrome is generally considered the most common variant of the klinefelter syndrome 47, xxy. In 1959, patricia jacobs identified that men who had klinefelter s syndrome had a chromosome pattern, or karyotype, 47, xxy or often referred to as xxy. The most common ks karyotype is 47, xxy greater than 90%. If you have any recommendations for sites that have helped you, please feel free to let me know and i will be glad to add to the resources below. Klinefelter syndrome an overview sciencedirect topics. Klinefelter syndrome simple english wikipedia, the free. Recent advances in managing and understanding klinefelter. Support groups can meet in homes, public meetings spaces at libraries or churches and synagogues, or in community rooms at hospitals. At the xxy project we are anti anything that depicts chromosome variations of any description as being abnormal because what theyre describing is not the natural variation these differences are but rather something thats broken and something that needs to be fixed. Among the variant kline felter genotypes are such karyotypes as xy xxy and xx xxy. Klinefelter syndrome with xyxxy mosaic klinefelters. Information for prenatally diagnosed x and y variants. In 1942, when harry klinefelter identified 9 men with similar characteristics, the syndrome he identified was given his name.
This is a diagram for information about what a 47 xxy individual may have as far as symptoms which can be a part of xxy and possibly klinefelter syndrome. 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. A guide for families and individuals affected by x and y chromosome variations cover msw, virginia isaacs on. Abramsky l, chapple j 47,xxy klinefelter syndrome and 47,xyy. Several symptoms of klinefelter syndrome, 47, xxy, are almost universal.
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Living with klinefelter syndrome 47, xxy trisomy x 47,xxx and 47, xyy. The majority of klinefelter syndrome patients have the xxy karyotype. This book is distributed under the terms of the creative commons. One extra copy of the x chromosome in each cell xxy, the most. These patients, together with five xxyy subjects recorded in the literature, show the clinical features of klinefelters syndrome. Those of us who learn about klinefelter syndrome at whatever age are in desperate need of finding others that share our situation. Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a xxy sex chromosome karyotype. A variant klinefelter syndrome patient with an xxyxxxy. Though some variation in physical and mental development is. Klinefelter syndrome occurs when a boy is born with one or more extra x chromosomes.
Approximately 15% of klinefelter patients, however, are mosaics with variable phenotypes. Possible symptoms of klinefelter syndrome for any age group. A guide for families and individuals affected by x and y chromosome variations by virginia isaacs cover mar 1, 2012 4. Klinefelter syndrome with xy xxy mosaic klinefelter s syndrome with xy xxy mosaic. About 47,xxx trisomy x the association for x and y. Among the variant klinefelter genotypes are such karyotypes as xy xxy and xx xxy. According to existing epidemiological studies ks is one of the most common genetic disorders, affecting 1 in. Medical management of klinefelter syndrome xxy in adults leen wehbeh m. Klinefelter syndrome ks is a condition that occurs in men who have one or more extra x chromosomes.
Having extra x chromosomes can cause a male to have some physical traits unusual for males. The book also offers a glimpse into the various aspects of klinefelter s syndrome. Persons with ks have an additional x chromosome creating karyotype 47, xxy and 46, xy47, xxy mosaics. Variants of klinefelter syndrome occur more infrequently. Clinical and research fellow division of endocrinology, diabetes and metabolism. The genetic variation is irreversible, thus there is no causal therapy. 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 variable and as. Klinefelters syndrome or xxy klinefelters syndrome. The lived experience of 47xxy klinefelter syndrome. Often, symptoms may be subtle and many people do not realize they are affected. You have in your sources 2 pieces of literature that bear this out. Handbook of genetic counselingklinefelter syndrome. The typical symptoms are a tall stature, narrow shoulders. Medical science, clinicians and the like are steadfastly stuck on the notion that.
Many support groups have found that a meetings with a speaker and group discussion, and social events such as picnics or meetings at restaurants work best to. Most commonly, affected individuals are taller than average are unable to father biological children infertile. Medical management of klinefelter syndrome xxy in adults. The syndrome is the result of one additional x chromosome, or a 47,xxy karyotype. Consider awake intubation or avoid airway manipulation altogether if there is risk of neurologic injury with movement of the cervical spine. Buy living with klinefelter syndrome 47, xxy trisomy x 47, xxx and 47, xyy. Online shopping from a great selection at books store. When in 1942 harry klinefelter and his colleagues described the condition carrying his name 1, its aetiology was unknown. Living with klinefelter syndrome 47,xxy trisomy x genetic org. A guide for families and individuals affected by extra x and y chromosome variations. The book provides clear explanations of the genetics involved, diagnosis and disclosure issues, development from infancy through early. A history of testosterone supplementation appeared to be associated with increased verbal fluency scores in ks patients.
Variants of klinefelter syndrome include those patients with more than. About klinefelter syndrome klinefelter syndrome x and y. Perioperative control of blood glucose levels to prevent hypoglycemia or severe hyperglycemia. Jun 4, 2019 klinefelter syndrome is a genetic disorder that affects males. This conclusion, if proven, is of interest because the denver team had consistently claimed in the past, that sex chromosome aneuploidy individuals to begin with are not that different from chromosomally normal controls dsb.
The multiple cases of 47, xxy females are all the more reason to not use the outdated term klinefelter syndrome since 1 not all xxys are male 2 not all xxy males have klinefelter syndrome and 3 not all males with klinefelter syndrome are xxy or variant, some are xy. Klinefelter syndrome xxy describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. Klinefelter syndrome and its variants are the most common forms of sex chromosome aneuploidy, with a reported incidence of 1 in 500 to 1 in live births. See more ideas about x chromosome, disorders and genetics. While often compared with 47, xxy klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,xxyy, 48,xxxy and 49,xxxxy syndromes are associated with additional physical findings, congenital malformations, medical problems and. Xyy syndrome is a genetic condition in which a male has an extra y chromosome. A guide for families and individuals affected by x and y chromosome variations. Klinefelter syndrome ks or 47, xxy is a chromosomal disorder in males.
Both ks and trisomy x also have variant forms in which there are. Klinefelter syndrome symptoms and causes mayo clinic. Living with klinefelter syndrome 47, xxy trisomy x 47,xxx and 47,xyy. The presence of one or more additional x chromosomes above the typical 46,xy in males leads to testicular dysgenesis and hypergonadotropic hypogonadism, and thus, 48,xxyy, 48,xxxy and 49,xxxxy are often considered variants of klinefelter syndrome 47, xxy because of these shared features. Support groups the association for x and y chromosome. The ks story has been compiled by a person with klinefelter s syndrome karyotype. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Understanding klinefelter syndrome, a guide for xxy males and their families, by robert bock 1993, national institute of health. Dr michael noble 47xxy mortality in patients with klinefelter syndrome in britain. The mosaic forms of klinefelter syndrome are due to mitotic nondisjunction after fertilization of the zygote.
Instead of the typical xy chromosomes in men, they have xxy, so this condition is sometimes called. Below are some links for more information for those who have one of these variants or a friend or family member with these rarer variants of klinefelter syndrome. Chromosomal variants amongst xxy klinefelter syndrome mary f. Klinefelter syndrome nord national organization for rare.
It is a subject of interest because of its wide spectrum of clinical manifestations, which include certain physical features, cognitive delays, and azoospermia. In 1959 jacobs and strong 2 recognized the chromosomal basis of the disorder, until then solely defined through a set of clinical criteria. People who have klinefelter s syndrome are often called xxy males, or 47, xxy males. These forms can arise from a 46,xy zygote or a 47, xxy zygote. Klinefelter syndrome ks, also known as 47, xxy or xxy, is the set of symptoms that result from two or more x chromosomes in males. The syndrome can affect boys and men at different stages. Chromosomal variants amongst xxy klinefelter syndrome. Klinefelter syndrome, 47, xxy, or xxy syndrome is a genetic disorder where people have an extra number of x chromosomes. Three males with an xxyy sex chromosome complex are described. Positives of having klinefelter syndrome and who we are. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or. Is the prevalence of klinefelter syndrome increasing. Klinefelter syndrome xxy was described more than four decades ago in adult phenotypic males with gynecomastia, hypergonadotropic hypogonadism, and azoospermia.
Some prefer to remain anonymous while others tell anyone who will listen about this interesting condition called klinefelter s syndrome. Thanks to the generosity of the book s author, virginia isaacs cover, msw, axys is pleased to make this book available to the x and y variation community, in its entirety, at no cost. The most common ks karyotype is 47, xxy greater than 90 %. 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.