Chromosome instability is common in human cleavage-stage embryos View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-05

AUTHORS

Evelyne Vanneste, Thierry Voet, Cédric Le Caignec, Michèle Ampe, Peter Konings, Cindy Melotte, Sophie Debrock, Mustapha Amyere, Miikka Vikkula, Frans Schuit, Jean-Pierre Fryns, Geert Verbeke, Thomas D'Hooghe, Yves Moreau, Joris R Vermeesch

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. More... »

PAGES

577-583

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nm.1924

DOI

http://dx.doi.org/10.1038/nm.1924

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013820464

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19396175


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