Philadelphia chromosome or Philadelphia translocation is a specific
chromosomal abnormality that is associated with
chronic myelogenous leukemia (CML). It is due to a reciprocal
translocation, an exchange of genetic material, between chromosomes 9 and 22. The presence of this translocation is a highly sensitive test for CML, since 95% of people with CML have this abnormality (The remainder have either a cryptic translocation that is invisible on G-banded chromosome preparations, or a variant translocation involving another chromosome or chromosomes as well as the long arm of chromosomes 9 and 22). However, the presence of the Philadelphia (Ph) chromosome is not sufficient to diagnose CML, since it is also found in
acute lymphoblastic leukemia (ALL, 25–30% in adult and 2–10% in
pediatric cases) and occasionally in
acute myelogenous leukemia (AML).
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The hallmark of chronic myeloid leukemia (CML). The Ph chromosome is an abbreviated chromosome #22 that was shortchanged in an exchange with chromosome #9. This exchange (a translocation) occurs in a bone marrow cell and causes CML.
An abnormality of chromosome 22 in which part of chromosome 9 is transferred to it. Bone marrow cells that contain the Philadelphia chromosome are often found in chronic myelogenous leukemia.
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