Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.

Eur J Hum Genet

Service de Génétique et INSERM U316, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours Cedex 1, France.

Published: April 2003

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Article Abstract

Genetic heterogeneity has been demonstrated in FG syndrome. We report a systematic study of the X-inactivation profile of obligate carriers and other females in FG pedigrees. It was expected that the characterization of particular X-inactivation profiles in carriers in some families might be related to the same mutated gene. Analysis of the X-inactivation profiles in carriers demonstrated different profiles but no correlation was found with the results of the linkage study.

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http://dx.doi.org/10.1038/sj.ejhg.5200959DOI Listing

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