Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

J Med Genet. 2003 May;40(5):e62. doi: 10.1136/jmg.40.5.e62.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosomes, Human, Pair 22 / genetics*
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Gene Duplication*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome
  • Trisomy / genetics*