Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Grabowski, M; Fauth, C; Wirtz, A; Speicher, MR.
Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12).
Am J Med Genet. 2000; 92(4):264-268
Doi: 10.1002/(SICI)1096-8628(20000605)92:4<264::AID-AJMG8>3.0.CO;2-T
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
- Führende Autor*innen der Med Uni Graz
- Speicher Michael
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- 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 -
- Find related publications in this database (Keywords)
- ectopic nucleolus organizer region
- ribosomal DNA
- AgNOR technique
- multiplex-FISH