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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cat eye syndrome


Other Names for this Disease
  • Cat-eye syndrome
  • CES
  • Chromosome 22 inversion/duplication
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
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Cause

Newline Maker

What causes cat eye syndrome?

Cat eye syndrome is most often caused by a chromosome abnormality called an inverted duplicated 22. In people with this condition, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of cat eye syndrome.[1]
Last updated: 4/11/2015

References
  1. Chromosome 22. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/chromosome/22.


Other Names for this Disease
  • Cat-eye syndrome
  • CES
  • Chromosome 22 inversion/duplication
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.