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Diagnosis in Prader-Willi syndrome.
  1. C E Chu,
  2. A Cooke,
  3. J B Stephenson,
  4. J L Tolmie,
  5. B Clarke,
  6. W L Parry-Jones,
  7. J M Connor,
  8. M D Donaldson
  1. Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow.


    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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