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; Sylvain Briault

doi:10.1038/sj.ejhg.5200959

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

Eur J Hum Genet. 2003 Apr;11(4):352-6. doi: 10.1038/sj.ejhg.5200959.

Authors

Martine Raynaud¹, Sabine Dessay, Nathalie Ronce, John Opitz, Marcus Pembrey, Corrado Romano, Claude Moraine, Sylvain Briault

Affiliation

¹ Service de Génétique et INSERM U316, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours Cedex 1, France. [email protected]

PMID: 12700610
DOI: 10.1038/sj.ejhg.5200959

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Autoradiography
Chromosomes, Human, X / genetics*
Dosage Compensation, Genetic*
Female
Humans
Lod Score
Microsatellite Repeats
Pedigree
Receptors, Androgen / genetics
Syndrome

Substances

Receptors, Androgen