Cytogenetic characterization of cat eye syndrome marker chromosome
Wenger, S.L.; Surti, U.; Nwokoro, N.A.; Steele, M.W.
Annales de Genetique 37(1): 33-36
1994
ISSN/ISBN: 0003-3995 PMID: 8010712 Document Number: 434936
Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. The authors have evaluated the marker chromosome in a proband and his mother by cytogenetic banding techniques to verify the dicentric chromosomal rearrangement and by fluorescence in situ hybridization to confirm the involvement of 22. The mother also had an affected offspring with an unrelated aneuploidy, trisomy 21.
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