Tandem duplication of proximal 22q

A cause of cat-eye syndrome

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

Research output: Contribution to journalArticle

29 Citations (Scopus)

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 - 1985
Externally publishedYes

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Galactosidases
Cerebroside-Sulfatase
Coloboma
Karyotype
Chromosomes
Parents
Schmid-Fraccaro syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Reiss, J. A., Weleber, R., 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

Tandem duplication of proximal 22q : A cause of cat-eye syndrome. / Reiss, J. A.; Weleber, Richard; Brown, M. G.; Bangs, C. D.; Lovrien, E. W.; Magenis, R. E.

In: American Journal of Medical Genetics, Vol. 20, No. 1, 1985, p. 165-171.

Research output: Contribution to journalArticle

Reiss, JA, Weleber, R, Brown, MG, Bangs, CD, Lovrien, EW & Magenis, RE 1985, 'Tandem duplication of proximal 22q: A cause of cat-eye syndrome', American Journal of Medical Genetics, vol. 20, no. 1, pp. 165-171. https://doi.org/10.1002/ajmg.1320200120
Reiss, J. A. ; Weleber, Richard ; Brown, M. G. ; Bangs, C. D. ; Lovrien, E. W. ; Magenis, R. E. / Tandem duplication of proximal 22q : A cause of cat-eye syndrome. In: American Journal of Medical Genetics. 1985 ; Vol. 20, No. 1. pp. 165-171.
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