Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.
A male is described with familial duplication of the distal long arm of the X chromosome (Xq27.2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter.
Lammer
E J
EJ
Division of Medical Genetics, Children's Hospital, Oakland, California, USA. elammer@mail.cho.org
Punglia
D R
DR
Fuchs
A E
AE
Rowe
A G
AG
Cotter
P D
PD
D020131:Genes, Duplicate; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome