What is the significance of the Philadelphia chromosome to chronic myeloid leukemia (CML)? Does it cause leukemia?

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CharlesSchifferMD (Physician - Hematology (Verified) ) - 08 / 31 / 2012

The Philadelphia chromosome, discovered in 1969 in the city of the same name, is found in all patients with CML. It appears under the microscope as a loss of genetic material on chromosome 22, but actually is a consequence of a balanced exchange of DNA between chromosomes 9 and 22 which produces an abnormal gene which in turn produces an abnormal protein called bcr/abl. The bcr/abl protein signals cell growth which is not inhibited by normal mechanisms by which the body regulates the numbers of circulating cells. It is the abnormal bcr/abl which is responsible for the signs and symptoms experienced by patients with CML. With rare exceptions, the cause of the development of the mutation is not known.
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