Interstitial 6q deletion with a Prader--Willi-like phenotype: a new case and review of the literature
HJ Gilhuis, CM van Ravenswaaij, BJC Hamel… - European Journal of …, 2000 - Elsevier
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.
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.