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- W1976040863 abstract "We have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and nonisotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chromosome 22 and it did not present the same morphology in all the cells. At least 5 distinct types of the marker chromosome were detected and some of them were probably derived from each other (dynamic mosaicism). The proposita had an MCA pattern consistent with mild cat eye syndrome, while her sister and her mother had some of the manifestations described in this syndrome. A specific corelation could be established between phenotype and karyotype. © 1994 Wiley-Liss, Inc." @default.
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- W1976040863 date "1994-01-01" @default.
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- W1976040863 title "Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome" @default.
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- W1976040863 doi "https://doi.org/10.1002/ajmg.1320490114" @default.
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