Diagnosis in Prader-Willi syndrome.

نویسندگان

  • C E Chu
  • A Cooke
  • J B Stephenson
  • J L Tolmie
  • B Clarke
  • W L Parry-Jones
  • J M Connor
  • M D Donaldson
چکیده

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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عنوان ژورنال:
  • Archives of disease in childhood

دوره 71 5  شماره 

صفحات  -

تاریخ انتشار 1994