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.
No takes yet. Share an insight, caveat, or question.
Mary K. Bofinger (1977) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: