Cytogenetic investigation of cat-eye syndrome

Richard Weleber, Janina Walknowska, David Peakman

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Using multiple chromosomal banding techniques, we studied a child with typical cat-eye syndrome and ocular retraction syndrome. Although the mother was chromosomally normal, other maternal relatives showed features of the cat-eye syndrome, suggesting the basic abnormality is heritable. The abnormal chromosome in our case was most likely the product of reciprocal translocation where short arm plus centromeric chromatin from two separate acrocentric chromosomes fused together. The chromosomes involved were probably No. 22 and either Nos. 13 or 14. The basic underlying defect in cat-eye syndrome may be a heritable fragile site or some other predisposition leading to complex chromosomal interchange.

Original languageEnglish (US)
Pages (from-to)477-486
Number of pages10
JournalAmerican Journal of Ophthalmology
Volume84
Issue number4
StatePublished - 1977

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Cytogenetics
Chromosomes
Duane Retraction Syndrome
Mothers
Chromatin
Schmid-Fraccaro syndrome

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Weleber, R., Walknowska, J., & Peakman, D. (1977). Cytogenetic investigation of cat-eye syndrome. American Journal of Ophthalmology, 84(4), 477-486.

Cytogenetic investigation of cat-eye syndrome. / Weleber, Richard; Walknowska, Janina; Peakman, David.

In: American Journal of Ophthalmology, Vol. 84, No. 4, 1977, p. 477-486.

Research output: Contribution to journalArticle

Weleber, R, Walknowska, J & Peakman, D 1977, 'Cytogenetic investigation of cat-eye syndrome', American Journal of Ophthalmology, vol. 84, no. 4, pp. 477-486.
Weleber, Richard ; Walknowska, Janina ; Peakman, David. / Cytogenetic investigation of cat-eye syndrome. In: American Journal of Ophthalmology. 1977 ; Vol. 84, No. 4. pp. 477-486.
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