title: A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.
abstract: We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q due to a de novo 3;15 unbalanced translocation. The 10.6 Mb deletion extends from the chromosome 15 short arm and is not situated in a region previously reported as a common distal breakpoint for unbalanced translocations. There was no deletion of the reciprocal chromosome 3q subtelomeric region detected by either chromosomal microarray or FISH. The patient has hypotonia, failure to thrive, and typical dysmorphic facial features for PWS. The patient also has profound global developmental delay consistent with an expanded, more severe, phenotype.
authors.affiliation: Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address: scott.hickey@nationwidechildrens.org.
authors.forename: Scott E
authors.initials: SE
authors.lastname: Hickey
authors.forename: Devon Lamb
authors.initials: DL
authors.lastname: Thrush
authors.forename: Lauren
authors.initials: L
authors.lastname: Walters-Sen
authors.forename: Shalini C
authors.initials: SC
authors.lastname: Reshmi
authors.forename: Caroline
authors.initials: C
authors.lastname: Astbury
authors.forename: Julie M
authors.initials: JM
authors.lastname: Gastier-Foster
authors.forename: Joan
authors.initials: J
authors.lastname: Atkin
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
keywords: Atypical deletion; Prader–Willi syndrome; Unbalanced translocation