The occurrence of aneuploidy in human: lessons from the cytogenetic studies of human oocytes

Eur J Med Genet. 2006 Mar-Apr;49(2):103-16. doi: 10.1016/j.ejmg.2005.08.001. Epub 2005 Sep 26.


During the last 4 decades, the cytogenetic investigation of human oocytes has never stopped to progress, according to the advents of new technologies. Both karyotyping and molecular cytogenetic studies have been reported to date, providing a large body of data on the incidence and the distribution of chromosomal abnormalities in human female gametes. However, these studies display a great variability in results, which may be essentially attributable to the limitations of these techniques when applied to human oocytes. The most relevant analysis have led to the estimate that 15-20% of human oocytes present chromosome abnormalities, and they have emphasized the implication of both whole chromosome nondisjunction and chromatid separation in the occurrence of aneuploidy in human oocytes. The effect of advanced maternal age on the incidence of aneuploidies in human oocytes has also been clearly evidenced by recent reports based on large sample of oocytes or polar bodies, whereas most of initial studies have failed to confirm any relationship between maternal age and aneuploidy in human oocytes.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Cytogenetic Analysis* / methods
  • Cytogenetic Analysis* / trends
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • In Situ Hybridization, Fluorescence / trends
  • Maternal Age
  • Oocytes*