LETTER TO JMG

Relationship between clinical and genetic diagnosis of Prader-Willi syndrome

J Whittington¹, A Holland¹, T Webb², J Butler¹, D Clarke³, H Boer⁴

¹ Section of Developmental Psychiatry, Department of Psychiatry, University of Cambridge, 18b Trumpington Road, Cambridge CB2 2AH, UK
² Department of Genetics, Birmingham Maternity Hospital, Birmingham, UK
³ Lea Castle Centre, North Warwickshire NHS Trust, UK
⁴ Janet Shaw Clinic, North Warwickshire NHS Trust, UK

Correspondence to:
Correspondence to:
Dr J Whittington, Section of Developmental Psychiatry, Department of Psychiatry, University of Cambridge, 18b Trumpington Road, Cambridge CB2 2AH, UK;
jew1000@cus.cam.ac.uk

Keywords: Prader-Willi syndrome; clinical criteria; genetic diagnosis

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

A s part of a population based study of Prader-Willi syndrome (PWS), we have examined more closely the relationship between clinical and genetic diagnoses in a large number of people with established or suspected PWS. We report here on agreements and disagreements between clinical and genetic diagnoses. We consider whether a genetic diagnosis implies the presence of any one (or more) of the major, minor, or supportive diagnostic criteria, and also whether the presence of any one (or more) particular diagnostic criteria¹ implies a positive genetic finding, and what minimal genetic findings correspond to a positive finding on the basis of the clinical diagnostic criteria. In this paper, we also report on four specific cases that illustrate diagnostic difficulties. An early diagnosis of PWS is of particular importance as the propensity to overeat can start as early as 2 years of age, and parental control of access to food can . . . [Full text of this article]

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