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Birth prevalence of Prader-Willi syndrome in Australia
  1. A Smith1,
  2. J Egan2,
  3. G Ridley3,
  4. E Haan4,
  5. P Montgomery5,
  6. K Williams6,
  7. E Elliott3
  1. 1Department of Cytogenetics, Children’s Hospital at Westmead
  2. 2Children’s Hospital at Westmead, Sydney
  3. 3The Australian Paediatric Surveillance Unit
  4. 4The South Australian Clinical Genetics Service
  5. 5Irrabeena, Perth
  6. 6Department of Clinical Epidemiology, Children’s Hospital at Westmead
  1. Correspondence to:
    Dr A Smith, Department of Cytogenetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia;


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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