title: Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
abstract: 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.
authors.affiliation: Department of Child Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: Gilhuis
authors.forename: C M
authors.initials: CM
authors.lastname: van Ravenswaaij
authors.forename: B J
authors.initials: BJ
authors.lastname: Hamel
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*