Chromosome instability is common in human cleavage-stage embryos.

Full 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.

Author information

Author/s: Vanneste, Evelyne (E); Voet, Thierry (T); Le Caignec, Cédric (C); Ampe, Michèle (M); Konings, Peter (P); Melotte, Cindy (C); Debrock, Sophie (S); Amyere, Mustapha (M); Vikkula, Miikka (M); Schuit, Frans (F); Fryns, Jean-Pierre (JP); Verbeke, Geert (G); D'Hooghe, Thomas (T); Moreau, Yves (Y); Vermeesch, Joris R (JR);

Affiliation: Center for Human Genetics, K.U.Leuven, Belgium.

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Nature medicine (Nat Med), published in United States. (Language: eng)

Reference: 2009-May; vol 15 (issue 5) : pp 577-83

Dates: Created 2009/05/08; Completed 2009/07/09;

PMID: 19396175, status: MEDLINE (last retrieval date: 7/24/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

Comments and Corrections

CommentIn: Nat Med. 2009 May;15(5):490-1. (PMID: 19424206)

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