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

✍ Scribed by Reiss, Jacob A. ;Weleber, Richard G. ;Brown, Michael G. ;Bangs, Charles D. ;Lovrien, Everett W. ;Magenis, R. Ellen ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 472 KB
Volume: 20
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320200120

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✦ Synopsis

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 22qll.l + 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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