Structural Abnormalities

Structural abnormalities result from chromosome breakage, incorrect DNA repair, or rearrangement of genetic material.

Common examples include:

• Deletion: Loss of a chromosome segment.
• Duplication: An additional copy of a chromosome segment.
• Inversion: Reversal of the orientation of a chromosome segment.
• Translocation: Transfer of genetic material between chromosome regions, sometimes involving different chromosomes.
• Ring chromosome: Formation of a circular chromosome following structural changes that affect chromosome ends.

The biological consequences of these alterations depend on their location, size, gene content, and effects on gene regulation.