title: Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.
abstract: 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.
authors: Division of Medical Genetics, Children's Hospital, Oakland, California, USA. elammer@mail.cho.org
authors: E J
authors: EJ
authors: Lammer
authors: D R
authors: DR
authors: Punglia
authors: A E
authors: AE
authors: Fuchs
authors: A G
authors: AG
authors: Rowe
authors: P D
authors: PD
authors: Cotter
mesh_terms: 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