Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population

Hum Genet. 1996 Mar;97(3):283-6. doi: 10.1007/BF02185754.

Abstract

We have determined the parental origin in eight cases of constitutional trisomy+ 8. In all four cases of spontaneous abortion, the additional chromosome was maternal in origin and there was evidence for nullichiasmate meiosis I occurring in the genesis of this trisomy. In contrast, all four cases of liveborn trisomy 8 appear to have arisen by a mechanism consistent with the post-zygotic mitotic gain of the additional chromosome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Spontaneous / genetics*
  • Adult
  • Chromosomes*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mosaicism / genetics
  • Polymerase Chain Reaction
  • Pregnancy
  • Trisomy / genetics*