t(6;8)(q27;p11)

Preferred Label : t(6;8)(q27;p11);

NCIt synonyms : t 6 8 q27 p11;

NCIt definition : A chromosomal translocation involving breakpoints within the q27 band on the long arm of chromosome 6 and the p11 band on the short arm of chromosome 8. This rearrangement is associated with FGFR1-CEP43 fusion gene expression and myelodysplastic syndrome.;

NCIt note : The Atlas of Genetics and Cytogenetics in Oncology and Haematology designates t(6;8)(q27;p12) as the breakpoints of the CEP43-FGFR1 fusion.;

PubMed : 9949182;

Détails

Origin ID

C36402;

UMLS CUI

C1515780;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 6 [NCIt concept]
- Human Chromosome 8 [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Chronic Eosinophilic Leukemia, Not Otherwise Specified [NCIt concept]
molecular_abnormality_involves_gene
- CEP43 Gene [NCIt concept]
- FGFR1 Gene [NCIt concept]
- FGFR1/FGFR1OP Fusion Gene [NCIt concept]
- FGFR1OP/FGFR1 Fusion Gene [NCIt concept]
- Fibroblast Growth Factor Receptor Family Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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