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Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
Author(s) -
Liu Anthony P.Y.,
Tang Wing Fai,
Lau Elizabeth T.,
Chan Kelvin Y.K.,
Kan Anita S.Y.,
Wong Kar Yin,
Tso Winnie W.Y.,
Jalal Khair,
Lee So Lun,
Chau Christy S.K.,
Chung Brian H.Y.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35909
Subject(s) - genetics , biology , phenotype , genetic testing , breakpoint , horseshoe kidney , chromosome , medicine , pediatrics , gene , kidney
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. © 2013 Wiley Periodicals, Inc.