Medical Definition of Microdeletion

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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.

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Reviewed on 12/12/2018

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