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Clin Genet. 1992 Aug;42(2):91-6.

Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.

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Institut für Humangenetik, Friedrich-Alexander Universität, Erlangen-Nürnberg, Germany.


Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.

[Indexed for MEDLINE]

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