Cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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PMID (PMCID)
24959203 (4067088)	OTHER
	A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.
	Haltrich I, Piko H, Kiss E, Toth Z, Karcagi V, Fekete G. Mol Cytogenet. 2014;7:37.
	Here we report on a 19 years old boy with intellectual disability having an unexpected structurally complex ring small supernumerary marker chromosome (sSMC) originated from a larger trisomy and a smaller tetrasomy of proximal 22q11 harboring additional copies of cat eye syndrome critical regions genes.