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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Acknowledgements
We thank the families for their cooperation, Marie-Noëlle Marson for technical assistance and Brigitte Jauffrion for lymphoblastoid cell lines. We also thank Doreen Raine for editing the English language and Professor Alain Goudeau for allowing the use of his densitometer. This work was partly supported by the INSERM PROGRES network.
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Raynaud, M., Dessay, S., Ronce, N. et al. Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. Eur J Hum Genet 11, 352–356 (2003). https://doi.org/10.1038/sj.ejhg.5200959
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DOI: https://doi.org/10.1038/sj.ejhg.5200959
