Typical and partial cat eye syndrome: identification of the marker chromosome by FISH

Clin Genet. 1992 Aug;42(2):91-6. doi: 10.1111/j.1399-0004.1992.tb03146.x.


Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.

Publication types

  • Case Reports

MeSH terms

  • Anus, Imperforate / genetics*
  • Chromosome Aberrations / diagnosis*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 22*
  • Coloboma / genetics*
  • Facial Bones / abnormalities
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Syndrome


  • Genetic Markers