Journal
NATURE MEDICINE
Volume 15, Issue 5, Pages 577-583Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nm.1924
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Funding
- Institute for the Promotion of Innovation through Science and Technology (IWT-Flanders) [SBO-60848, GOA/2006/12]
- Research Council K. U. Leuven [EF/05/007]
- Fonds de la Recherche Scientifique
- Institute for the Promotion of Innovation through Science and Technology in Flanders
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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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