t(17;22)(q22;q13)

Preferred Label : t(17;22)(q22;q13);

NCIt synonyms : t 17 22 q22 q13;

NCIt definition : A cytogenetic abnormality that refers to a chromosomal translocation involving the long arm (q22) of chromosome 17 and the long arm (q13) of chromosome 22. It is associated with the expression of COL1A1/PDGFB fusions and most if not all cases of dermatofibrosarcoma protuberans (DFSP).;

Details

Origin ID

C36520;

UMLS CUI

C1515732;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 17 [NCIt concept]
- Human Chromosome 22 [NCIt concept]
is_abnormality_of_gene
- COL1A1/PDGFB Fusion Gene [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Dedifferentiated Dermatofibrosarcoma Protuberans [NCIt concept]
- Dermatofibrosarcoma Protuberans with Giant Cell Fibroblastoma-Like Differentiation [NCIt concept]
- Dermatofibrosarcoma Protuberans with Myoid Differentiation [NCIt concept]
- Fibrosarcomatous Dermatofibrosarcoma Protuberans [NCIt concept]
- Giant Cell Fibroblastoma [NCIt concept]
- Myxoid Dermatofibrosarcoma Protuberans [NCIt concept]
- Pigmented Dermatofibrosarcoma Protuberans [NCIt concept]
- Plaque-Like Dermatofibrosarcoma Protuberans [NCIt concept]
molecular_abnormality_involves_gene
- COL1A1 Gene [NCIt concept]
- COL1A1/PDGFB Fusion Gene [NCIt concept]
- PDGFB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients