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

✍ Scribed by Grabowski, Monika; Fauth, Christine; Wirtz, Antje; Speicher, Michael R.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 25 KB
Volume: 92
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000605)92:4<264::aid-ajmg8>3.0.co;2-t

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✦ Synopsis

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. Am.

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