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.
Skewed X chromosome inactivation in carriers is not constant finding in FG syndome
Romano C.;
2003-01-01
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.File in questo prodotto:
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