Mosaic aneuploidy in early fetal losses

Cytogenet Genome Res. 2011;133(2-4):169-83. doi: 10.1159/000324120. Epub 2011 Feb 9.


Chromosomal mosaicism is the presence of 2 or more cell lines with different karyotypes in the same individual. Mosaic karyotypes are a remarkable feature of early stages of human embryo development. They result from mitotic errors in chromosome segregation and demonstrate the clearest example of somatic mutagenesis in human beings. This review is devoted to the classification of chromosomal mosaicism and the analysis of its underlying mechanisms, incidence and phenotypic effects during embryo development. A model for tissue-specific aneuploid cell line compartmentalization in spontaneous abortions is introduced.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aneuploidy*
  • Chromosomes, Human
  • Embryo Loss / genetics*
  • Female
  • Humans
  • Models, Biological
  • Mosaicism*
  • Pregnancy