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  • Title: Down's syndrome in Western Australia: cytogenetics and incidence.
    Author: Mulcahy MT.
    Journal: Hum Genet; 1979 Apr 17; 48(1):67-72. PubMed ID: 156692.
    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.
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