J Med Genet 2001;38:792-798 ( November )

Letters to the editor

Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region

J E Whittington^a, A J Holland^a, T Webb^b, J Butler^a, D Clarke^c, H Boer^d

^a Section of Developmental Psychiatry, University of Cambridge, 18b Trumpington Road, Cambridge CB2 2AH, UK, ^b Department of Genetics, University of Birmingham, UK, ^c North Warwickshire NHS Trust, Lea Castle Centre, Wolverley, Kidderminster, UK, ^d North Warwickshire NHS Trust, Janet Shaw Clinic, Marston Green, Birmingham, UK

Correspondence to: Dr Whittington, jew1000@cus.cam.ac.uk

The first 150 words of the full text of this article appear below.

	Introduction

EDITORPrader-Willi syndrome (PWS) is a genetically determined disorder in which the absence of expression of one or more maternally imprinted gene(s) in the chromosomal region 15q11-13 results in a characteristic facial appearance, learning disabilities (mental retardation), and severe overeating behaviour owing to an abnormal satiety response to food intake, together with a range of other behaviours. Initially, as reported by Prader et al,¹ PWS was conceived as a syndrome of obesity, short growth, cryptorchidism, and mental retardation following hypotonia in the neonatal period. As more and more people with PWS were reported and research into the syndrome began, behavioural characteristics and other clinical features were added, culminating in the consensus diagnostic criteria.² Concurrently, the genetics of the disorder were receiving attention. First was the discovery that for many there was a visible chromosomal deletion in the proximal part of the long arm of chromosome 15 (15q11-13). Reports . . . [Full text of this article]

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