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Partial Trisomy 22 Due to Translocation in the Mother

Mary K. Bofinger, MD; Shirley W. Soukup, PhD

Am J Dis Child. 1977;131(8):893-897.

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.

(Am J Dis Child 131:893-897, 1977)

Author Affiliations
From the Children's Hospital Research Foundation and the Institute for Developmental Research Department of Pediatrics, University of Cincinnati.

Footnotes
Reprint requests to Division of Teratology and Genetics, Children's Hospital Research Foundation, Elland and Bethesda Aves, Cincinnati, OH 45229 (Dr Bofinger).

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