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Typical and partial cat eye syndrome: identification of the marker chromosome by FISH
Author(s) -
Liehr T.,
Pfeiffer R. A.,
Trautmann U.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03146.x
Subject(s) - tetrasomy , cosmid , biology , marker chromosome , genetics , fish <actinopterygii> , chromosome , genetic marker , partial trisomy , small supernumerary marker chromosome , supernumerary , identification (biology) , karyotype , dna , anatomy , gene , fishery , botany
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.