Klinefelter syndrome is the most common sex chromosome disorder. This condition is not typically inherited from one parents. Its occurs when a boy is born with one or more extra X-Chromosomes. After puberty, KS boys may have . Un estudio extenso sobre bebés menores de 2 años de edad con síndrome de Klinefelter indicó que la mayoría de los bebés XXY tenían genitales externos normales y rasgos faciales, altura y peso en el rango normal, pero muchos tenían un retraso de la marcha y/o del habla. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. Boys may be taller than other boys their age, with more fat around the belly. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. It is relatively common, occurring in about 1 of every 500 baby boys. Klinefelter syndrome (KS). Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. Nieschlag E. (2013) Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Klinefelter syndrome and other sex chromosome polysomies. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. Klinefelter Syndrome is a genetic disorder that affects males. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. KS is a genetic disorder caused by the addition of an extra X chromosome in phenotypic men occurring in an estimated 1:600 live infants. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Objective: To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS. No one knows what puts a couple at risk for conceiving an XXY child. Another typical, although not consistently reported, symptom of this disorder is gyneco­ mastia with almost normal male secondary sex characteristics. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for post-natal diagnosis with implications for prenatal counsel-ling. More Information. Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose substantial diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. Objective To increase awareness among general practitioners of their role in the diagnosis and management of KS. Klinefelter syndrome (KS) is a genetic condition resulting from an additional X chromosome in phenotypic males (47,XXY). Design: Subject identification via prospectively collected database. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. Chromosomes, found in all body cells, contain genes. So Klinefelter Syndrome is a trisomic disorder. This may have implications for treatment of Klinefelter's syndrome and suggests that the X chromosome may be involved in the … Abramsky L, Chapple J. Retrieved 27 January We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype Klinefelter syndrome and coronal craniosynostosis. Klinefelter Syndrome may be diagnosed in infancy or early childhood but diagnosis may be delayed until adulthood, at the time of a couple seeking assistance for infertility. Discussion KS has a highly varied phenotype comprising a range of physical and psychosocial features and comorbidities. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. There are a number of problems occurring throughout life that might cause this diagnosis to be considered. Klinefelter syndrome is one of the most common chromosomal disordersoccurring in one to two per 1, live male births. Plotton I, Giscard d’Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F & Lejeune H; FERTIPRESERVE group. Syndrome in comparison with 26 healthy controls and recurrent ear infections chromosome, but often overlooked or.. 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