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

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

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 - May 13 1987

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Mars
Genetic Markers
Trisomy
Isochromosomes
Chromosomes, Human, Pair 22
Chromosome Aberrations
Chromosomes
Schmid-Fraccaro syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Cat-eye syndrome with different marker chromosomes in a mother and daughter. / Ing, P. S.; Lubinsky, M. S.; Smith, Shelley D; Golden, E.; Sanger, W. G.; Duncan, A. M.

In: American Journal of Medical Genetics, Vol. 26, No. 3, 13.05.1987, p. 621-628.

Research output: Contribution to journalArticle

Ing, P. S. ; Lubinsky, M. S. ; Smith, Shelley D ; Golden, E. ; Sanger, W. G. ; Duncan, A. M. / Cat-eye syndrome with different marker chromosomes in a mother and daughter. In: American Journal of Medical Genetics. 1987 ; Vol. 26, No. 3. pp. 621-628.
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