t(5;12)(q33;p13)

Preferred Label : t(5;12)(q33;p13);

NCIt synonyms : t 5 12 q33 p13;

NCIt definition : A chromosomal translocation involving breakpoints within the q33 band on the long arm of chromosome 5 and the p13 band on the short arm of chromosome 12. This rearrangement is rare and may be associated with expression of various fusion genes (including ATF7IP-PDGFRB, ERC1-PDGFRB, ETV6-EBF1 and ETV6-PDGFRB) and myeloproliferative disorders.;

PubMed : 7803280;

Details

Origin ID

C36399;

UMLS CUI

C1515773;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 12 [NCIt concept]
- Human Chromosome 5 [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Bone Marrow Eosinophilia [NCIt concept]
- Eosinophilia [NCIt concept]
- Eosinophilia Greater than 1500 cells per Microliter [NCIt concept]
- Hypereosinophilia of Undetermined Significance [NCIt concept]
- Peripheral Blood Eosinophilia [NCIt concept]
related_to_genetic_biomarker
- ATF7IP Gene [NCIt concept]
- EBF1 Gene [NCIt concept]
- EBF1/PDGFRB Fusion Gene [NCIt concept]
- ERC1 Gene [NCIt concept]
- ETV6 Gene [NCIt concept]
- ETV6/PDGFRB Fusion Gene [NCIt concept]
- PDGFRB Gene [NCIt concept]

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