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

J. A. Reiss, R. G. Weleber, M. G. Brown, C. D. Bangs, E. W. Lovrien, R. E. Magenis

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29 Scopus citations

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→11.2. 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.

Original languageEnglish (US)
Pages (from-to)165-171
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume20
Issue number1
DOIs
StatePublished - Apr 4 1985

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Reiss, J. A., Weleber, R. G., Brown, M. G., Bangs, C. D., Lovrien, E. W., & Magenis, R. E. (1985). Tandem duplication of proximal 22q: A cause of cat-eye syndrome. American Journal of Medical Genetics, 20(1), 165-171. https://doi.org/10.1002/ajmg.1320200120