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), 309-317. (doi:10.1093/humupd/dmg028).

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Original Publication URL: http://dx.doi.org/10.1093/humupd/dmg028

Description/Abstract

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.

Item Type: Article
Additional Information: Embryology
ISSNs: 1355-4786 (print)
Related URLs:
Keywords: aneuploidy, chromosomal abnormalities, Klinefelter syndrome, meiotic non-disjunction, recombination
Subjects: R Medicine > RG Gynecology and obstetrics
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 24986
Date Deposited: 05 Apr 2006
Last Modified: 27 Mar 2014 18:14
Contact Email Address: tjh6@po.cwru.edu
URI: http://eprints.soton.ac.uk/id/eprint/24986

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