Diagnosis in Prader-Willi syndrome

Arch Dis Child. 1994 Nov;71(5):441-2. doi: 10.1136/adc.71.5.441.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Chromosome Deletion
  • DNA Probes
  • Diagnostic Errors
  • Female
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics


  • DNA Probes