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Definition of Microdeletion
Medically reviewed by Min Clinic Staff | Updated: January 2026
Microdeletion: Loss of a tiny piece that may be too small to be seen readily through a microscope'from a chromosome. Microdeletions can be detected via high-resolution chromosome banding, molecular chromosome analysis (with FISH), or DNA analysis. Disorders caused by microdeletions include Angelman, DiGeorge, Prader-Willi, and Williams syndromes.