Philadelphia chromosome

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ΕΤΥΜΟΛΟΓΙΑ

Named after the city in which it was described. Peter Nowell gives historical account of its discovery in the Journal of Clinical Investigation 2007.[1]

A shortened chromosome 22, it was first described in 1960 in chronic myeloid leukaemia (CML) as the first specific cytogenetic marker.[2][3] 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).

References

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