Dictionary of Human Evolution and Biology

  • -id > 9:3

Philadelphia Chromosome

A major chromosome anomaly caused by the balanced translocation of a portion of chromosome 9 to 22 (t9;22, 9q34 and 22q11.21) that results in a new tiny chromosome, Ph1. The clinical outcome is a condition characterized by abnormal proliferation of bone marrow cell lines, and chronic myeloid leukemia (CML), produced when the Abelson oncogene (ABL) and the breakpoint cluster regions (BCR) demonstrate a synergistic position effect, and produce an abnormal fusion protein that causes cancer. Patients live about four years until immature WBCs overtake other cells, resulting in death. The breakage on chromosome 22 occurs in the BCR.

Cf. Burkitt lymphoma.

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