Diagnosis in Prader-Willi syndrome. |
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| Authors: | C E Chu A Cooke J B Stephenson J L Tolmie B Clarke W L Parry-Jones J M Connor and M D Donaldson |
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| Institution: | Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow. |
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| 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. |
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