Birth prevalence of Prader-Willi syndrome in Australia
- 1Department of Cytogenetics, Children’s Hospital at Westmead
- 2Children’s Hospital at Westmead, Sydney
- 3The Australian Paediatric Surveillance Unit
- 4The South Australian Clinical Genetics Service
- 5Irrabeena, Perth
- 6Department of Clinical Epidemiology, Children’s Hospital at Westmead
- Correspondence to:
Dr A Smith, Department of Cytogenetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia;
ellies{at}chw.edu.au
- Accepted 23 September 2002
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.
- APSU, Australian Paediatric Surveillance Unit
- FISH, fluorescence in situ hybridisation
- PWS, Prader-Willi syndrome








