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Chromosome instability is common in human cleavage-stage embryos.

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Affiliations

  • 1. Center for Human Genetics, K.U.Leuven, Belgium.
      Authors
    • Vanneste E 1
    (1 author)

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Nature Medicine, 26 Apr 2009, 15(5):577-583
https://doi.org/10.1038/nm.1924 PMID: 19396175 

A comment on this article appears in "Chaos in the embryo." Nat Med. 2009 May;15(5):490-1.

Abstract 

Chromosome instability is a hallmark of tumorigenesis. This study establishes that chromosome instability is also common during early human embryogenesis. A new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells. This revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles. This explains the low human fecundity and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.

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Read article at publisher's site: https://doi.org/10.1038/nm.1924

Read article for free, from open access legal sources, via Unpaywall: https://lirias.kuleuven.be/bitstream/123456789/263054/2/Vanneste2009.pdfUnpaywall

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