Diagnostic trends in childhood chromosome abnormalities and their implications--a total population eight-year survey from Queensland, Australia.

The data from an ongoing total population survey of all diagnosed chromosome anomalies in Queensland, Australia have been presented for an 8-year period (1976-83). A total of 760 patients was diagnosed, principally autosomal trisomies (431) and sex chromosome abnormalities (126). Nearly half of total childhood diagnoses (up to 14 years) were made in the first week. Virtually all expected cases of autosomal trisomies were detected in the first month. The largest component of the pool of unrecognized childhood disorders in this study was the sex chromosome group. This failure of detection has implications in terms of potentially beneficial hormone treatment and predisposition to neoplasia.