variants of klinefelter syndrome

The registry includes information on maternal age, method [amniocentesis or chorion villus sampling (CVS)], and the outcome of the pregnancy (induced abortion, spontaneous abortion, or live birth). In terms of information about these variants, again there is very little. %%EOF 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 psychological features.” Talk to our Chatbot to narrow down your search. array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants. 1999 Sep;67(1):50-6. doi: 10.1006/exmp.1999.2244. USA.gov. Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. Klinefelter syndrome in clinical practice. Klinefelter syndrome and other sex chromosomal aneuploidies. eCollection 2019. XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes. they are considered variants of Klinefelter syndrome. The likelihood of the variants of Klinefelter syndrome in newborn males is estimated to be as follows: 1. %PDF-1.5 %���� Nat Clin Pract Urol. 105 0 obj <> endobj References ↑ p176.Passarge E.,2007, Color Atlas of genetics. 22 The prevalence is also greater … Possible Symptoms of Klinefelter Syndrome for any Age Group Variants Other than 47XXY & Helpful Information for Prenatal Diagnosis Information for Prenatally diagnosed X and Y variants Klinefelter syndrome Variants Testicular sperm extraction (TESE) Intracytoplasmic sperm injection (ICSI) Male infertility Spermatogenesis Genetic counselling Sperm retrieval This is a preview of subscription content, log in to check access. It is suspected that Klinefelter syndrome is underdiagnosed because mild cases may not be identified. Check the full list of possible causes and conditions now! Two extra X chromosomes (XXXY): 1 in 50,000 newborn males 3. Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or other numeric sex chromosome abnormalities (48,XXXY, 48,XXYY, and 49,XXXXY). Klinefelter syndrome occurse due to a random event when the reproductive cells (eggs and sperm) are forming in the parent. Although 47,XXY is the most common karyotype for individuals with Klinefelter syndrome a number of other aberrant karyotypes can cause Klinefelter syndrome. Intractable Rare Dis Res. Klinefelter syndrome, variants is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).  |  Introduction: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These conditions include 48,XXXY syndrome , 48,XXYY syndrome , and 49,XXXXY syndrome . 2008 Jan;93(1):169-76. doi: 10.1210/jc.2007-1426. 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