Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
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.
Vogels
Annick
A
Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
Holvoet
Maureen
M
Descheemaeker
Mie-Jef
MJ
Fryns
Jean-Pierre
JP
Devriendt
Koen
K
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