Cat eye syndrome. Partial trisomy 22 due to translocation in the mother
M. K. Bofinger and S. W. Soukup
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.