Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
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.
Raynaud
Martine
M
Service de Génétique et INSERM U316, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours Cedex 1, France. raynaud@med.univ-tours.fr
Dessay
Sabine
S
Ronce
Nathalie
N
Opitz
John
J
Pembrey
Marcus
M
Romano
Corrado
C
Moraine
Claude
C
Briault
Sylvain
S
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
D011944:Receptors, Androgen