Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome

Clin Dysmorphol. 2001 Apr;10(2):141-4. doi: 10.1097/00019605-200104000-00012.

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.

Publication types

  • Case Reports

MeSH terms

  • Genes, Duplicate*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Phenotype
  • Prader-Willi Syndrome / genetics*
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*