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Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation

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Summary

In lymphocytes of a human female carrier of a balanced X;3 translocation, 46,X,t(X;3)(q28;q21), late replication of the structurally normal X chromosome only was previously described (de la Chapelle and Schröder 1973). We have now confirmed this finding using a fresh blood sample. Examining the chromosomes of this individual in fibroblasts we observed that either the normal X or the Xq+ chromosome could replicate late and show inactivity after fusion with heteroploid mouse cells. The replication patterns of chromosomes in human X;autosome translocations have so far almost exclusively been analyzed in lymphocytes. Our findings stress that results based on these cells are not representative for all cell types.

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Authors and Affiliations

  1. Institut für Humangenetik, Universität Münster, Vesaliusweg 12-14, Münster, Germany

    Bernard Hellkuhl & Karl-Heinz Grzeschik

  2. Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, 00290, Helsinki 29, Finland

    Albert de la Chapelle

Authors
  1. Bernard Hellkuhl
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  2. Albert de la Chapelle
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  3. Karl-Heinz Grzeschik
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Hellkuhl, B., de la Chapelle, A. & Grzeschik, KH. Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation. Hum Genet 60, 126–129 (1982). https://doi.org/10.1007/BF00569697

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  • DOI: https://doi.org/10.1007/BF00569697

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