Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

  title={Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.},
  author={Koenraad Devriendt and Gert Matthijs and Eric Legius and Els Schollen and Daniel Blockmans and Christel A Van Geet and H. Degreef and J. J. Cassiman and Jean Pierre Fryns},
  journal={American journal of human genetics},
  volume={60 3},
In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical… CONTINUE READING

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