Tandem duplication of proximal 22q: a cause of cat-eye syndrome

Am J Med Genet. 1985 Jan;20(1):165-71. doi: 10.1002/ajmg.1320200120.


A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1----q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. Blood marker results and the levels of galactosidase-2, galactosidase-B and arylsulfatase-A, which are known to be coded on 22q, are normal.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Chromosomes, Human, 21-22 and Y*
  • Coloboma / genetics*
  • Ear, External / abnormalities
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome
  • Trisomy