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  • Title: Cat eye syndrome. Partial trisomy 22 due to translocation in the mother.
    Author: Bofinger MK, Soukup SW.
    Journal: Am J Dis Child; 1977 Aug; 131(8):893-97. PubMed ID: 888806.
    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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