Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t(4;14)(q21;p12) |
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| Authors: | Monika Grabowski Christine Fauth Antje Wirtz Michael R. Speicher |
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| Affiliation: | 1. Institut für Anthropologie und Humangenetik, LMU München, Munich, Germany;2. Abteilung für medizinische Genetik der Kinderklinik, LMU München, Munich, Germany |
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| Abstract: | 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. J. Med. Genet. 92:264–268, 2000. © 2000 Wiley‐Liss, Inc. |
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| Keywords: | ectopic nucleolus organizer region ribosomal DNA Ag‐NOR technique multiplex‐FISH |
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