title: Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.
abstract: We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2-q14 and a 25.12 kb deletion in 5pter. The 15q11.2-q14 deletion encompassed the 15q11.2-q13 Prader-Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with similar deletions in chromosome 15q exhibit expanded phenotype of severe developmental delay, protracted feeding problem, absent speech, central visual impairment, congenital malformations and epilepsy in addition to those typical of PWS. The patient reported herein had previously unreported anomalies of mega cisterna magna, horseshoe kidney and the rare neonatal interstitial lung disease known as pulmonary interstitial glycogenosis. Precise breakpoint delineation by microarray is useful in patients with atypical PWS deletions to guide investigation and prognostication.
authors: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, and Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
authors: Anthony P Y
authors: AP
authors: Liu
authors: Wing Fai
authors: WF
authors: Tang
authors: Elizabeth T
authors: ET
authors: Lau
authors: Kelvin Y K
authors: KY
authors: Chan
authors: Anita S Y
authors: AS
authors: Kan
authors: Kar Yin
authors: KY
authors: Wong
authors: Winnie W Y
authors: WW
authors: Tso
authors: Khair
authors: K
authors: Jalal
authors: So Lun
authors: SL
authors: Lee
authors: Christy S K
authors: CS
authors: Chau
authors: Brian H Y
authors: BH
authors: Chung
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019175:DNA Methylation; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D014178:Translocation, Genetic