Diagnosis in Prader-Willi syndrome. Issue 5 (November 1994)

• Record Type: Journal Article
• Authors: Chu, C E; Cooke, A; Stephenson, J B; Tolmie, J L; Clarke, B; Parry-Jones, W L; Connor, J M; Donaldson, M D
• Is Part Of: Archives of disease in childhood. Volume 71:Issue 5(1994)
• Page Start: 441
• Page End: 442
• Publication Date: 1994-11
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.71.5.441
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular genetic studies.