Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature

Eur J Paediatr Neurol. 2000;4(1):39-43. doi: 10.1053/ejpn.1999.0259.


We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 6*
  • Diagnosis, Differential
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Phenotype*
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*