A shortened chromosome 22, it was first described in 1960 in chronic myeloid leukaemia (CML) as the first specific cytogenetic marker. Its reciprocal chromosomal translocation t(9;22)(q34;q11) actually can create the BCR-ABL fusion protein which has components from breakpoint cluster region protein and tyrosine kinase Abelson murine leukaemia protein (ABL).
- ↑ Nowell PC. Discovery of the Philadelphia chromosome: a personal perspective. The Journal of clinical investigation. 2007 Aug; 117(8):2033-5.(Link to article – subscription may be required.)
- ↑ Nowell P, Hungerford D. A minute chromosome in human chronic granulocytic leukemia. Science. 1960;132:1497.
- ↑ NOWELL PC, HUNGERFORD DA. Chromosome studies on normal and leukemic human leukocytes. Journal of the National Cancer Institute. 1960 Jul; 25:85-109.