Typical and partial cat eye syndrome: identification of the marker chromosome by FISH
- 28 June 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 42 (2) , 91-96
- https://doi.org/10.1111/j.1399-0004.1992.tb03146.x
Abstract
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.Keywords
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