• 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.
(Am J Dis Child 131:893-897, 1977)
Bofinger MK, Soukup SW. Cat Eye Syndrome: Partial Trisomy 22 Due to Translocation in the Mother. Am J Dis Child. 1977;131(8):893–897. doi:10.1001/archpedi.1977.02120210071015
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