Matches in DBpedia 2016-04 for { ?s ?p "The Philadelphia chromosome or Philadelphia translocation is a specific abnormality of chromosome 22, which is unusually short, as an acquired abnormality that is most commonly associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and chromosome 22, which is specifically designated t(9;22)(q34;q11). This gives rise to a fusion gene, BCR-ABL1, that juxtaposes the ABL1 gene on chromosome 9 (region q34) to a part of the BCR ("breakpoint cluster region") gene on chromosome 22 (region q11). 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 sufficiently specific 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)."@en }
Showing triples 1 to 1 of
1
with 100 triples per page.
- Q1129111 abstract "The Philadelphia chromosome or Philadelphia translocation is a specific abnormality of chromosome 22, which is unusually short, as an acquired abnormality that is most commonly associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and chromosome 22, which is specifically designated t(9;22)(q34;q11). This gives rise to a fusion gene, BCR-ABL1, that juxtaposes the ABL1 gene on chromosome 9 (region q34) to a part of the BCR ("breakpoint cluster region") gene on chromosome 22 (region q11). 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 sufficiently specific 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).".