Cat Eye Syndrome

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An autosomal dominant [MIM 115470] condition characterised by vertical iris coloboma—ergo, ‘cat eye’—microphthalmia, pale optic discs, ocular hypertelorism, downward slanting of palpebral fissures, preauricular fistula, anal atresia, umbilical hernia, mental retardation, cardiac and renal defects
Genetics A small extra acrocentric chromosome is typical, possibly from chromosome 14; most have 1+ extra copies of chromosome 22q11
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.
(3,10) In 2000, Riazi et al reported that they had isolated and characterized a gene--CECR1 (cat-eye syndrome chromosome region, candidate 1)--that maps to this region.