Human Genetics

, Volume 48, Issue 1, pp 67–72 | Cite as

Down's syndrome in Western Australia: Cytogenetics and incidence

  • Marie T. Mulcahy
Original Investigations


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.


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Copyright information

© Springer-Verlag 1979

Authors and Affiliations

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

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