Article
The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype.
Andrology - 1 Mar 2016
Rocca M S, Pecile V, Cleva L, Speltra E, Selice R, Di Mambro A, Foresta C, Ferlin A
Abstract excerpt
The Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder in males, characterized by at least one supernumerary X chromosome (most frequent karyotype 47,XXY). This syndrome presents with a broad range of phenotypes. The common characteristics include small testes and infertility, but KS subjects are at increased risk of hypogonadism, cognitive dysfunction, obesity, diabetes, metabolic syndrome,...
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