CYTOGENETIC CHARACTERIZATION OF CAT EYE SYNDROME MARKER CHROMOSOME

Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. The authors have evaluated the marker chromosome in a prob and and his mother by cytogenetic banding techniques to verify the dic entric chromosomal rearrangement and by fluorescence in situ hybridiza tion to confirm the involvement of 22. The mother also had an affected offspring with an unrelated aneuploidy, trisomy 21.