Cat eye syndrome. Partial trisomy 22 due to translocation in the mother.
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.
D001003:Anal Canal / Q000002:abnormalities; D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D003103:Coloboma; D004423:Ear / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy