What is the chromosomal abnormality that characterizes Chronic Myeloid Leukemia (CML)?
Understand the Problem
The question is asking about the specific chromosomal abnormality that is a hallmark of Chronic Myeloid Leukemia (CML). This involves identifying the genetic mutation or rearrangement that is characteristically found in CML patients.
Answer
The Philadelphia chromosome, resulting from a translocation between chromosomes 9 and 22.
The chromosomal abnormality that characterizes Chronic Myeloid Leukemia (CML) is called the Philadelphia chromosome. It results from a translocation between chromosome 9 and chromosome 22, specifically a section of chromosome 9 switches places with a section of chromosome 22.
Answer for screen readers
The chromosomal abnormality that characterizes Chronic Myeloid Leukemia (CML) is called the Philadelphia chromosome. It results from a translocation between chromosome 9 and chromosome 22, specifically a section of chromosome 9 switches places with a section of chromosome 22.
More Information
The Philadelphia chromosome is present in 90-95% of CML cases. It involves a reciprocal translocation, t(9;22)(q34;q11), which creates the BCR-ABL1 fusion gene. This gene produces an abnormal tyrosine kinase, leading to uncontrolled cell growth.
Tips
It's important to remember that the Philadelphia chromosome is a result of a translocation between chromosomes 9 and 22, not a deletion or duplication.
Sources
- Leukemia, chronic myeloid - Genes and Disease - NCBI Bookshelf - ncbi.nlm.nih.gov
- Chronic Myeloid Leukemia (CML) | Learn What Is CML | LLS - lls.org
- Chronic Myelogenous Leukemia - StatPearls - NCBI Bookshelf - ncbi.nlm.nih.gov
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