Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.
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.
Liehr
T
T
Institut für Humangenetik, Friedrich-Alexander Universität, Erlangen-Nürnberg, Germany.
Pfeiffer
R A
RA
Trautmann
U
U
D001006:Anus, Imperforate / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
D005819:Genetic Markers