This is the first population based study to estimate the birth prevalence of DNA proven Prader-Willi syndrome. Thirty infants were reported to the Australian Paediatric Surveillance Unit between 1998 and 2000, a prevalence of 4 per 100 000 live births or ∼1/25 000 live births per annum.
- Prader-Willi syndrome
- APSU, Australian Paediatric Surveillance Unit
- FISH, fluorescence in situ hybridisation
- PWS, Prader-Willi syndrome
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