title: Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
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.
authors.affiliation: Service de Génétique et INSERM U316, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours Cedex 1, France. raynaud@med.univ-tours.fr
authors.forename: Martine
authors.initials: M
authors.lastname: Raynaud
authors.forename: Sabine
authors.initials: S
authors.lastname: Dessay
authors.forename: Nathalie
authors.initials: N
authors.lastname: Ronce
authors.forename: John
authors.initials: J
authors.lastname: Opitz
authors.forename: Marcus
authors.initials: M
authors.lastname: Pembrey
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Sylvain
authors.initials: S
authors.lastname: Briault
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001345:Autoradiography; D041321:Chromosomes, Human, X / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics; D013577:Syndrome
chemical_list: D011944:Receptors, Androgen