Cat-eye syndrome with different marker chromosomes in a mother and daughter

P. S. Ing, M. S. Lubinsky, S. D. Smith, E. Golden, W. G. Sanger, A. M. Duncan

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Except for atypical eye findings in the daughter, a mother and daughter with bisatellited marker chromosomes had abnormalities consistent with cat-eye syndrome. The mother's marker chromosome (mar number 1) is derived from one 22 and another acrocentric, possibly also a 22; the daughter's marker (mar number 2) may be an iso-dicentric, inv-dup (22) derivative of mar number 1. The mother has a tertiary trisomy translocation chromosome composed of at least one and perhaps two copies of 22pter→q11.2, whereas the daughter clearly has a secondary trisomy 22pter→q11.2 isochromosome, confirming this region as a cause of cat-eye syndrome. Results of hybridization using a unique sequence probe localized to 22q11 are consistent with the interpretation that both ends of both marker chromosomes are derived from 22.

Original languageEnglish (US)
Pages (from-to)621-628
Number of pages8
JournalAmerican journal of medical genetics
Volume26
Issue number3
DOIs
StatePublished - 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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