Article Text

PDF

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.

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.