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. 1997 Mar;60(3):581–587.

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

K Devriendt 1, G Matthijs 1, E Legius 1, E Schollen 1, D Blockmans 1, C van Geet 1, H Degreef 1, J J Cassiman 1, J P Fryns 1
PMCID: PMC1712491  PMID: 9042917

Abstract

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 role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.

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Selected References

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