X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.
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ABSTRACT:
SUBMITTER: Amos-Landgraf JM
PROVIDER: S-EPMC1559535 | biostudies-literature | 2006 Sep
REPOSITORIES: biostudies-literature
Publications
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.
Amos-Landgraf James M JM Cottle Amy A Plenge Robert M RM Friez Mike M Schwartz Charles E CE Longshore John J Willard Huntington F HF
American journal of human genetics 20060727 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 pat ...[more]
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