Aberrant recombination and the origin of Klinefelter syndrome

摘要: Trisomy is the most commonly identified chromosome abnormality in humans, occurring at least 4% of all clinically recognized pregnancies; it leading known cause pregnancy loss and mental retardation. Over past decade, molecular studies have demonstrated that human trisomies originate from errors maternal meiosis I. However, Klinefelter syndrome a notable exception, as nearly one-half cases derive paternal non-disjunction. In this review, data on origin sex are summarized, focusing 47,XXY condition. Additionally, results recent genetic mapping reviewed led to identification first correlate autosomal non-disjunction; i.e. altered levels positioning meiotic recombinational events.