Tandem duplication of proximal 22q: A cause of cat‐eye syndrome

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Abstract
A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46, XY, 22q + karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1 → q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat‐eye syndrome. Blood marker results and the levels of galactosidase‐2, galactosidase‐B and arylsulfatase‐A, which are known to be coded on 22q, are normal.

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