GTR Home > Conditions/Phenotypes > Cat eye syndrome

Summary

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Associated cytogenetic location

  • Location: 22q11

Clinical features

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