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


Journal Article

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.

Full Text

Cited Authors

  • Amos-Landgraf, JM; Cottle, A; Plenge, RM; Friez, M; Schwartz, CE; Longshore, J; Willard, HF

Published Date

  • September 2006

Published In

Volume / Issue

  • 79 / 3

Start / End Page

  • 493 - 499

PubMed ID

  • 16909387

Pubmed Central ID

  • 16909387

Electronic International Standard Serial Number (EISSN)

  • 1537-6605

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/507565


  • eng