Reiss J A, Weleber R G, Brown M G, Bangs C D, Lovrien E W, Magenis R E
Am J Med Genet. 1985 Jan;20(1):165-71. doi: 10.1002/ajmg.1320200120.
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.
