Cat's-eye syndrome (schachenmann syndrome; schmid-fraccaro syndrome; partial trisomy g syndrome)  216

General: Causative factor is one extra chromosome, a G chromosome, which may be from a 13-l5 or 21-22 chromosome; although the ocular findings of the syndrome are similar to the D 13-l5 trisomy group, the systemic manifestations usually are less severe; this syndrome is associated with a supernumerary bisatellited marker chromosome derived from duplicated regions of 22pter→22q11.2; partial cat's-eye syndrome is characterized by the absence of coloboma.

Ocular: Hypertelorism; microphthalmos; antimongoloid slant of palpebral fissures; strabismus; inferior vertical iris coloboma (cat eye); cataract; choroidal coloboma; epicanthal folds.

Clinical: Anal atresia; preauricular fistulae (bilateral); umbilical hernia; heart anomalies.

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Liehr T, et al. Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. Clin Genet 1992; 42:91-96.

Mears AJ, et al. Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet 1994; 55:134-l43.

Peterson RA. Schmid-Fraccaro syndrome ('cat's eye' syndrome): partial trisomy of G chromosome. Arch Ophthalmol 1973; 90:287.

Schachenmann G, et al. Chromosomes in coloboma and anal atresia. Lancet 1965; 2:290.

Weleber RG, et al. Cytogenetic investigation of cat-eye syndrome. Am J Ophthalmol 1977; 84:477.