The University of Southampton
University of Southampton Institutional Repository

Aberrant recombination and the origin of Klinefelter syndrome

Aberrant recombination and the origin of Klinefelter syndrome
Aberrant recombination and the origin of Klinefelter syndrome
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.
aneuploidy, chromosomal abnormalities, Klinefelter syndrome, meiotic non-disjunction, recombination
1355-4786
309-317
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Hassold, T.J.
9434281b-d2b8-4241-8614-e34ba01eb9b9
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Hassold, T.J.
9434281b-d2b8-4241-8614-e34ba01eb9b9

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).

Record type: Article

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.

This record has no associated files available for download.

More information

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

Identifiers

Local EPrints ID: 24986
URI: http://eprints.soton.ac.uk/id/eprint/24986
ISSN: 1355-4786
PURE UUID: aa16ca09-8832-49a6-8ebc-bab85a924029

Catalogue record

Date deposited: 05 Apr 2006
Last modified: 15 Mar 2024 06:59

Export record

Altmetrics

Contributors

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

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×