Mitotic disturbance associated with mosaic aneuploidies

Hum Genet. 1990 Mar;84(4):361-4. doi: 10.1007/BF00196235.

Abstract

The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.

Publication types

  • Case Reports

MeSH terms

  • Aneuploidy*
  • Centromere / ultrastructure
  • Humans
  • Infant
  • Male
  • Mitosis*
  • Mosaicism*
  • Nondisjunction, Genetic*