Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?

Annick Vogels; Maureen Holvoet; Mie-Jef Descheemaeker; Jean-Pierre Fryns; Koen Devriendt

doi:10.1016/s0003-3995(02)01107-3

Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?

Ann Genet. 2002 Jan-Mar;45(1):1-3. doi: 10.1016/s0003-3995(02)01107-3.

Authors

Annick Vogels¹, Maureen Holvoet, Mie-Jef Descheemaeker, Jean-Pierre Fryns, Koen Devriendt

Affiliation

¹ Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium

PMID: 11934381
DOI: 10.1016/s0003-3995(02)01107-3

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.

Publication types

Case Reports

MeSH terms

Adult
Child
Child, Preschool
Chromosomes, Human, Pair 15*
Female
Humans
Infant
Infant, Newborn
Mosaicism*
Prader-Willi Syndrome / physiopathology*
Trisomy*