Title: Chromosome instability is common in human cleavage-stage embryos
Authors: Vanneste, Evelyne *
Voet, Thierry *
Le Caignec, Cedric
Ampe, Michèle
Konings, Peter
Melotte, Cindy
Debrock, Sophie
Amyere, Mustapha
Vikkula, Miikka
Schuit, Frans
Fryns, Jean-Pierre
Verbeke, Geert
D'Hooghe, Thomas
Moreau, Yves
Vermeesch, Joris # ×
Issue Date: May-2009
Publisher: Nature Pub. Co.
Series Title: Nature Medicine vol:15 issue:5 pages:577-583
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.
ISSN: 1078-8956
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Assisted Reproductive Technology Laboratory (-)
Gene Expression Unit
Leuven Biostatistics and Statistical Bioinformatics Centre (L-BioStat)
Laboratory for Cytogenetics and Genome Research
Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
* (joint) first author
× corresponding author
# (joint) last author

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