[PDF][PDF] X Chromosome–inactivation patterns of 1,005 phenotypically unaffected females

JM Amos-Landgraf, A Cottle, RM Plenge… - The American Journal of …, 2006 - cell.com
JM Amos-Landgraf, A Cottle, RM Plenge, M Friez, CE Schwartz, J Longshore, HF Willard
The American Journal of Human Genetics, 2006cell.com
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 …
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.
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