To err (meiotically) is human: the genesis of human aneuploidy

Nat Rev Genet. 2001 Apr;2(4):280-91. doi: 10.1038/35066065.


Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies. Most aneuploid conceptuses perish in utero, which makes this the leading genetic cause of pregnancy loss. However, some aneuploid fetuses survive to term and, as a class, aneuploidy is the most common known cause of mental retardation. Despite the devastating clinical consequences of aneuploidy, relatively little is known of how trisomy and monosomy originate in humans. However, recent molecular and cytogenetic approaches are now beginning to shed light on the non-disjunctional processes that lead to aneuploidy.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Aneuploidy*
  • Animals
  • Chromosome Segregation / genetics
  • Down Syndrome / genetics
  • Female
  • Humans
  • Maternal Age
  • Meiosis / genetics*
  • Nondisjunction, Genetic
  • Polymorphism, Genetic / genetics
  • Pregnancy
  • Pregnancy, High-Risk
  • Recombination, Genetic / genetics
  • Risk Factors
  • Smoking / adverse effects
  • Trisomy / genetics