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

作者信息

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

机构信息

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

出版信息

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

DOI:10.1038/sj.ejhg.5200959

PMID:12700610

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.

摘要