title: Female factor IX deficiency due to maternally inherited X-inactivation.
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.
authors.affiliation: Division of Pediatric Hematology, Columbia University Medical Center, New York, NY 10032, USA.
authors.forename: J M
authors.initials: JM
authors.lastname: Esquilin
authors.forename: C M
authors.initials: CM
authors.lastname: Takemoto
authors.forename: N S
authors.initials: NS
authors.lastname: Green
mesh_terms: D000328:Adult; D005164:Factor IX / Q000235:genetics; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D017422:Sequence Analysis, DNA; D049951:X Chromosome Inactivation / Q000235:genetics*
chemical_list: D005164:Factor IX