Tandem duplication of proximal 22q: a cause of cat-eye syndrome - PubMed (original) (raw)
Case Reports
Tandem duplication of proximal 22q: a cause of cat-eye syndrome
J A Reiss et al. Am J Med Genet. 1985 Jan.
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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