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. 1977 Aug;131(8):893-97.
doi: 10.1001/archpedi.1977.02120210071015.

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

M K Bofinger, S W Soukup

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

M K Bofinger et al. Am J Dis Child. 1977 Aug.

Abstract

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.

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