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chromosomal mutation

Also known as: chromosomal aberration

Quick Summary

Chromosomal mutations, also known as chromosomal abnormalities or aberrations, involve changes in the number, size, or organization of chromosomes within a species. These changes can occur through various mechanisms, including the fusion or fission of chromosomes, or the addition or subtraction of entire chromosomes or sets of chromosomes (polyploidy). Structural changes can involve inversions, duplications, deletions, or translocations of chromosomal segments. These mutations are significant in evolution as they alter the linkage relationships between genes, potentially affecting their expression. Cytogenetics, the field that studies chromosomes and their inheritance, is crucial for understanding genetic diseases, many of which stem from chromosomal mutations.12

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