A patient with duplication (7)(p22.1pter) characterized by array-CGH

Am J Med Genet A. 2007 Jan 15;143A(2):168-71. doi: 10.1002/ajmg.a.31511.

Abstract

Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected on G-banding and characterized by array-CGH. We establish phenotype-karyotype correlations with the reported patients with other 7p duplications.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Chromosome Banding / methods
  • Chromosomes, Human, Pair 7 / genetics*
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Gene Duplication*
  • Humans
  • Infant
  • Infant, Low Birth Weight
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization / methods
  • Phenotype