Journal Article

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

Terry Hassold, Heather Hall and Patricia Hunt

in Human Molecular Genetics

Volume 16, issue R2, pages R203-R208
Published in print October 2007 | ISSN: 0964-6906
Published online October 2007 | e-ISSN: 1460-2083 | DOI:
The origin of human aneuploidy: where we have been, where we are going

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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.

Journal Article.  3880 words.  Illustrated.

Subjects: Genetics and Genomics

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