Cat eye syndrome. Partial trisomy 22 due to translocation in the mother

We describe a case of cat eye syndrome with 47,XX, +22q--. A balanced translocation, 46,XX,t(11;22), was found by banding studies in the mother. The clinical and cytogenetic correlations disclosed by a review of sporadic and familial cases illustrate the heterogeneity of the syndrome and the challenge to genetic counseling.