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Birth prevalence of Prader-Willi syndrome in Australia

Abstract

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
  • genetics
  • epidemiology
  • APSU, Australian Paediatric Surveillance Unit
  • FISH, fluorescence in situ hybridisation
  • PWS, Prader-Willi syndrome

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