Female factor IX deficiency due to maternally inherited X-inactivation

J. M. Esquilin, Clifford M Takemoto, N. S. Green

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)583-586
Number of pages4
JournalClinical Genetics
Volume82
Issue number6
DOIs
Publication statusPublished - Dec 2012

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Keywords

  • Factor IX
  • Hemophilia B
  • Skewed inactivation, X-chromosome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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