Down's syndrome in Western Australia: cytogenetics and incidence

Hum Genet. 1979 Apr 17;48(1):67-72. doi: 10.1007/BF00273276.

Abstract

235 cases of Down's syndrome were ascertained in a 10-year study of Down's syndrome in Western Australia. Although cytogenetic studies performed on 222 subjects confirmed that 95% of cases were trisomic due to nondisjunction, 4% were trisomic due to translocation, and 1% were mosaic, the ratio of inherited/sporadic translocations differed from that usually reported. Comparison of the results with those of an earlier Australian survey of Down's syndrome demonstrated a real fall in the incidence of Down's syndrome in Australia but no significant change in maternal age-specific incidences.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Australia
  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 21-22 and Y
  • Down Syndrome / epidemiology*
  • Down Syndrome / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Maternal Age
  • Middle Aged
  • Mosaicism
  • Translocation, Genetic
  • Trisomy