cat-eye syndrome


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cat-eye syndrome

Etymology: L, catta + AS, eage + Gk, syndromos, course
a rare congenital autosomal anomaly, marked by the presence of an extra, small chromosome 22 and pupils that resemble the vertical pupils of a cat. Anal atresia, heart abnormalities, and severe mental retardation are common.
References in periodicals archive ?
Partial tetrasomy of chromosome 22 is a rare multiple congenital anomaly syndrome that is more commonly known as cat-eye syndrome (CES).
1) However, it was not until 1965 that Schachenmann et al proposed the term cat-eye syndrome (CES) to describe the phenotype.