Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)

J Med Genet. 2003 Sep;40(9):682-4. doi: 10.1136/jmg.40.9.682.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 22 / genetics*
  • Chromosomes, Human, X / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / pathology
  • Translocation, Genetic*

Substances

  • DNA