Tandem duplication of proximal 22q: a cause of cat-eye syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D003103:Coloboma / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014314:Trisomy