Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12)

Am J Med Genet. 2000 Jun 5;92(4):264-8.


Reciprocal translocations involving a break in the nucleolus organizer region (NOR) are rare. A balanced translocation in a mother and her fetus with breakpoints in the NOR at 14p12 and on the long arm of a chromosome 4 at band 4q21 is described. The rearrangement was characterized by Ag-NOR staining, multiplex fluorescence in situ hybridization (M-FISH), and FISH with rDNA probes. This and other cases with breakpoints within NORs are discussed.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Breakage / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 4 / genetics*
  • Female
  • Fetus / metabolism
  • Gestational Age
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Nucleolus Organizer Region / genetics*
  • Pregnancy
  • Translocation, Genetic*