Human Genetics

, Volume 48, Issue 1, pp 67–72

Down's syndrome in Western Australia: Cytogenetics and incidence

  • Marie T. Mulcahy
Original Investigations

DOI: 10.1007/BF00273276

Cite this article as:
Mulcahy, M.T. Hum Genet (1979) 48: 67. doi:10.1007/BF00273276


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.

Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • Marie T. Mulcahy
    • 1
  1. 1.The Cytogenetics Unit, State Health Laboratory ServiceG.P.O.Perth