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.

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