SHORT REPORT

Birth prevalence of Prader-Willi syndrome in Australia

A Smith¹, J Egan², G Ridley³, E Haan⁴, P Montgomery⁵, K Williams⁶, E Elliott³

¹ Department of Cytogenetics, Children’s Hospital at Westmead
² Children’s Hospital at Westmead, Sydney
³ The Australian Paediatric Surveillance Unit
⁴ The South Australian Clinical Genetics Service
⁵ Irrabeena, Perth
⁶ Department of Clinical Epidemiology, Children’s Hospital at Westmead

Correspondence to:
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

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.

Keywords: Prader-Willi syndrome; genetics; epidemiology

Abbreviations: APSU, Australian Paediatric Surveillance Unit; FISH, fluorescence in situ hybridisation; PWS, Prader-Willi syndrome

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