Cytogenetic investigation of cat-eye syndrome

Richard G. Weleber, Janina Walknowska, David Peakman

Research output: Contribution to journalArticle

10 Scopus citations


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
Issue number4
StatePublished - Oct 1977


ASJC Scopus subject areas

  • Ophthalmology

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