Deletions with inversions: report of a mutation and review of the literature

Hum Mutat. 1993;2(1):53-7. doi: 10.1002/humu.1380020110.


Herein we report a 10.9 kb deletion and a 95 bp inversion in a patient with severe hemophilia B (factor IXHB209). With the addition of factor IXHB209, three of six characterized deletions in the factor IX gene are now known to include inversions. A high frequency of combined deletions and inversions has not previously been described in a human gene.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Base Sequence
  • Chromosome Inversion*
  • DNA
  • Factor IX / genetics*
  • Hemophilia B / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Sequence Deletion*


  • Factor IX
  • DNA