Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families

Ann Hum Genet. 1980 Jul;44(1):17-28. doi: 10.1111/j.1469-1809.1980.tb00942.x.

Abstract

QM variants on chromosome 21 and silver staining of NOR regions were applied in the study of non-disjunction in 110 families from different parts of Denmark. In 76% of the families the study was informative. Paternal failures were observed in 11% on Funen as compared 23.5% on Zealand. In one family, crossing-over on the short arms of chromosome 21 in the mother and mitotic non-disjunction of chromosome 21 was observed. Maternal first meiotic error predominates in both high maternal and low maternal age. Also in paternal non-disjunction failures of first meiotic division predominate. Two maternally and one paternally originated cases of de novo translocations were observed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, 21-22 and Y / ultrastructure
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Karyotyping
  • Male
  • Maternal Age
  • Nondisjunction, Genetic*
  • Paternal Age