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Semin Reprod Med 2012; 30(04): 302-308
DOI: 10.1055/s-0032-1313909
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Aneuploidy and Copy Number Variation in Early Human Development

Evelyne Vanneste
1   Laboratory for Cytogenetics and Genome Research
3   Center for Human Genetics, K.U. Leuven, UZ Gasthuisberg, Leuven, Belgium
,
Niels Van der Aa
2   Laboratory for Reproductive Genomics
3   Center for Human Genetics, K.U. Leuven, UZ Gasthuisberg, Leuven, Belgium
,
Thierry Voet
2   Laboratory for Reproductive Genomics
3   Center for Human Genetics, K.U. Leuven, UZ Gasthuisberg, Leuven, Belgium
,
Joris Robert Vermeesch Prof.
1   Laboratory for Cytogenetics and Genome Research
3   Center for Human Genetics, K.U. Leuven, UZ Gasthuisberg, Leuven, Belgium
› Author Affiliations
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Publication History

Publication Date:
21 June 2012 (online)

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Abstract

Early human in vitro fertilized embryos frequently accumulate whole chromosome aneuploidies and segmental imbalances. This embryonic chromosomal instability does not necessarily undermine normal human development, but it may lead to loss of conception, genetic disease, and genetic variation development. In this review we provide an overview of how this instability of chromosomes arises and evolves during early human embryogenesis.

Keywords

Aneuploidy - chromosomal instability - embryo
 

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