Changing Rates Of Genetic Subtypes Of Prader–Willi Syndrome In The UK

Joyce E Whittington, Jill V Butler and Anthony J Holland

Published in European Journal of Human Genetics (2007) 15, 127–130.

Department of Psychiatry, Section of Developmental Psychiatry, University of Cambridge, Cambridge, UK

Abstract:

The genetically determined neurodevelopmental disorder, Prader–Willi syndrome (PWS), has two main genetic subtypes: a 15q11–q13 deletion affecting the paternally inherited chromosome 15 and chromosome 15 maternal uniparental disomy (mUPD) in which two maternal copies of chromosome 15 are inherited but no paternal copy. It has been accepted that these subtypes occur in approximately 70 and 25% of cases, respectively. This is the first report of a greater proportion (50%) of those with PWS due to mUPD in children presently under 5 years living in the UK. Increasing maternal age at conception is likely to explain the changing proportions in this generation of mothers.

Correspondence:

Dr J. E. Whittington, Department of Psychiatry, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge CB2 2AH, UK. E-mail: jew1000@cam.ac.uk

Full article available online.

(C) European Journal of Human Genetics.

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