M. Grabowski et al., Breakpoint within the nucleolus organizer region resulting in a reciprocaltranslocation t(4;14)(q21;p12), AM J MED G, 92(4), 2000, pp. 264-268
Reciprocal translocations involving a break in the nucleolus organizer regi
on (NOR) are rare. A balanced translocation in a mot-her and her fetus with
breakpoints in the NOR at 14p12 and on the long arm of a chromosome 4 at b
and 4q21 is described. The rearrangement was characterized by Ag-NOR staini
ng, multiplex fluorescence in situ hybridization (M-FISH), and FISH with rD
NA probes. This and other cases with breakpoints within NORs are discussed.
Am. J. Med. Genet. 92:264-268, 2000. (C) 2000 Wiley-Liss, Inc.