title: Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
abstract: We report a female with Prader-Willi syndrome and hemihypertrophy. We discuss the possibility of an undetected mosaicism for trisomy 15 explaining this unusual feature.
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
authors.forename: Annick
authors.initials: A
authors.lastname: Vogels
authors.forename: Maureen
authors.initials: M
authors.lastname: Holvoet
authors.forename: Mie-Jef
authors.initials: MJ
authors.lastname: Descheemaeker
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009030:Mosaicism; D011218:Prader-Willi Syndrome / Q000503:physiopathology*; D014314:Trisomy