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

  title={X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.},
  author={James M Amos-Landgraf and Amy Cottle and Robert M. Plenge and Mike Friez and Charles E. Schwartz and John W. Longshore and Huntington F. Willard},
  journal={American journal of human genetics},
  volume={79 3},
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… CONTINUE READING
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