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Am J Hum Genet. 2006 Sep;79(3):493-9. Epub 2006 Jul 27.

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

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  • 1Department of Genetics, Case Western Reserve Univeristy, Cleveland, USA.

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 this data set, the degree of skewed inactivation in a given individual can now be quantified and evaluated for its potential clinical significance.

PMID:
16909387
[PubMed - indexed for MEDLINE]
PMCID:
PMC1559535
Free PMC Article

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