What is a chromosomal aberration?

A chromosomal aberration refers to a structural alteration of chromosomes that can have significant effects on gene function. Such aberrations can include deletions, duplications, inversions, or translocations of chromosome segments. These structural changes can disrupt normal gene placement and regulation, potentially leading to abnormal expressions or the loss of gene function.

For instance, when a section of a chromosome is deleted, any genes within that area are lost, which may result in genetic disorders if those genes are crucial for normal biological functions. Similarly, duplications can lead to overexpression of gene products, which can also have pathological consequences. Therefore, understanding chromosomal aberrations is crucial for grasping how genetic and genomic imbalances can influence health and disease.