A possible mosaic form of delayed centromere separation and aneuploidy

Hum Genet. 1992 Feb;88(4):477-8. doi: 10.1007/BF00215686.

Abstract

On average, a "normal" centromere separation sequence was seen in 3 neonates with trisomy 18 and in their parents. When evaluating individual mitoses, unusually late separating chromosomes 18 were found in a few cells of one of the parents in each family. A possible germline mosaicism of delayed separation in the parent may account for trisomy in the offspring.

MeSH terms

  • Aneuploidy*
  • Centromere / physiology*
  • Chromosome Banding
  • Chromosomes, Human, Pair 18*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Mosaicism*
  • Reference Values
  • Trisomy*