European Journal of Human Genetics

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

Martine Raynaud, Sabine Dessay, Nathalie Ronce, John Opitz, Marcus Pembrey, Corrado Romano, Claude Moraine and Sylvain Briault

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Figure 1 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, please contact help@nature.com or the author

Figure 1.

There are at least three gene localizations for FG syndrome: FGS1 (Xq12-Xq21.31), FGS2 (Xq11 or Xq28) and FGS3 (Xpter-Xp22.3).

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Figure 2.

Results of X chromosome inactivation analysis in 14 FG families (in order of family numbers). AR locus: bold type. FMR 1 locus: framed type. NA: not analysable, NI: not informative. Ages at time blood samples were taken are specified in italics when known. Alleles are numbered arbitrarily in each family and numbers are presented on the figure when it is of interest, followed by the density ratios of each allele. The four families with extremely skewed X-inactivation profiles suspected in carriers are framed and it is noted if the paternal or maternal allele was preferentially inactivated. Standard nomenclature is used for all symbols.

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