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- W2145789051 abstract "We report on a male with mild learning disabilities who has a supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridization as a ring X chromosome with breakpoints in the juxacentromeric region. Replication studies suggest that the ring X is late-replicating. However XIST, a gene in the X inactivation centre interval which is expressed exclusively from the inactive X chromosome, is not present on the marker, nor is it expressed in the patient's cells. These results are discussed with respect to karyotype-phenotype correlations and X inactivation." @default.
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- W2145789051 date "1993-12-01" @default.
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- W2145789051 title "Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization" @default.
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- W2145789051 doi "https://doi.org/10.1002/ajmg.1320470804" @default.
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