X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

ABSTRACT: X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome inactive and half with the maternally derived X chromosome inactive. Significant departures from such a random pattern are hallmarks of a variety of clinical states, including being carriers for severe X-linked diseases or X-chromosome cytogenetic abnormalities. To evaluate the significance of skewed patterns of X inactivation, we examined patterns of X inactivation in a population of >1,000 phenotypically unaffected females. The data demonstrate that only a very small proportion of unaffected females show significantly skewed inactivation, especially during the neonatal period. By comparison with

SUBMITTER: Amos-Landgraf JM 

PROVIDER: S-EPMC1559535 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature