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Aberrant recombination and the origin of Klinefelter syndrome

Thomas, N.S. and Hassold, T.J. (2003) Aberrant recombination and the origin of Klinefelter syndrome Human Reproduction Update, 9, (4), pp. 309-317. (doi:10.1093/humupd/dmg028).

Record type: Article


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

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Published date: 2003
Additional Information: Embryology
Keywords: aneuploidy, chromosomal abnormalities, Klinefelter syndrome, meiotic non-disjunction, recombination


Local EPrints ID: 24986
ISSN: 1355-4786
PURE UUID: aa16ca09-8832-49a6-8ebc-bab85a924029

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Date deposited: 05 Apr 2006
Last modified: 17 Jul 2017 16:12

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Author: N.S. Thomas
Author: T.J. Hassold

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