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    Functional disomy resulting from duplications of distal Xq in four unrelated patients

    Duplications involving the X chromosome, in which the duplicated region is not subject to inactivation, are rare. We describe four distal Xq duplications, in three males and one female, in which the duplicated...

    Katherine L. Lachlan, Morag N. Collinson, Richard O. C. Sandford… in Human Genetics (2004)