Female factor IX deficiency due to maternally inherited X-inactivation.

J M Esquilin, C M Takemoto, N S Green

Division of Pediatric Hematology, Columbia University Medical Center, New York, NY 10032, USA.

Clinical genetics 2012 Dec

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X-chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a dominant autosomal contribution to inherited skewed X inactivation. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

Citation

J M Esquilin, C M Takemoto, N S Green. Female factor IX deficiency due to maternally inherited X-inactivation. Clinical genetics. 2012 Dec;82(6):583-6