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Human Molecular Genetics 2007 16(R2):R203-R208; doi:10.1093/hmg/ddm243
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The origin of human aneuploidy: where we have been, where we are going

Terry Hassold*, Heather Hall and Patricia Hunt

School of Molecular Biosciences, Washington State University, Pullman, WA 99164, USA

* To whom correspondence should be addressed. Tel: +1 5093355537; Fax: +1 5093359688; Email: terryhassold{at}wsu.edu

Received August 16, 2007; Accepted August 22, 2007

Aneuploidy is the most common chromosome abnormality in humans, and is the leading genetic cause of miscarriage and congenital birth defects. Since the identification of the first human aneuploid conditions nearly a half-century ago, a great deal of information has accrued on its origin and etiology. We know that most aneuploidy derives from errors in maternal meiosis I, that maternal age is a risk factor for most, if not all, human trisomies, and that alterations in recombination are an important contributor to meiotic non-disjunction. In this review, we summarize some of the data that have led to these conclusions, and discuss some of the approaches now being used to address the underlying causes of meiotic non-disjunction in humans.


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