4.2 Article

Aneuploidy and Copy Number Variation in Early Human Development

Journal

SEMINARS IN REPRODUCTIVE MEDICINE
Volume 30, Issue 4, Pages 302-308

Publisher

THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0032-1313909

Keywords

Aneuploidy; chromosomal instability; embryo

Funding

  1. IWT [SBO-60848, TBM-090878, GOA/12/015]
  2. Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-Vlaanderen)
  3. [FWO-G.A093.11]
  4. [KUL PFV/10/016 SymBioSys]
  5. [FWO1.1.H28.12]

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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.

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