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Philadelphia chromosome Illustration and Icon
Philadelphia chromosome
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A schematic cytogenetic diagram shows a reciprocal translocation t(9;22)(q34;q11.2) between human chromosomes 9 and 22, producing a shortened derivative chromosome 22 (Ph) and a derivative chromosome 9. Colored bands indicate breakpoints that fuse BCR (breakpoint cluster region) with ABL1 (ABL proto-oncogene 1) to generate the BCR-ABL1 gene. In biological hierarchy, genes are located on chromosomes within the nucleus of Homo sapiens cells. In oncology and molecular biology, this fusion encodes a constitutively active tyrosine kinase that drives chronic myeloid leukemia (CML) and some acute lymphoblastic leukemia (ALL).
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