Abstract
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.
Original language | English (US) |
---|---|
Pages (from-to) | 583-586 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 82 |
Issue number | 6 |
DOIs | |
State | Published - Dec 2012 |
Keywords
- Factor IX
- Hemophilia B
- Skewed inactivation, X-chromosome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics