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Presumptive evidence of two active X chromosomes in somatic cells of a human female

Abstract

IN a female child with various morphological abnormalities and partial translocation trisomy X—haryotype: 46,XX, −22, +der(22),t(X;22)(q12;p11)mat—we have found evidence of two euchromatic X chromosomes in about 15% of metaphases from lymphocyte cultures. We believe this means that in these cells there were two active X chromosomes.

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BUHLER, E., JURIK, L., VOYAME, M. et al. Presumptive evidence of two active X chromosomes in somatic cells of a human female. Nature 265, 142–144 (1977). https://doi.org/10.1038/265142a0

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