Chromosome instability is common in human cleavage-stage embryos
Chromosome instability is common in human cleavage-stage embryos
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DOI：
10.1038/nm.1924
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发表时间：
2009-05-01
期刊：
影响因子：
82.9
通讯作者：
Vermeesch, Joris R.
中科院分区：
文献类型：
--
作者：
Vanneste, Evelyne;Voet, Thierry;Vermeesch, Joris R.
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.
