Medical Definition of Inversion, chromosome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 12/12/2018

Inversion, chromosome: A condition in which a chromosome segment is clipped out, turned upside down, and reinserted back into the chromosome. A chromosome inversion can be inherited from one or both parents, or it may be a mutation that appears in a child whose family has no history of chromosome inversion. An inversion can be 'balanced,' meaning that it has all the genes that are present in a normal chromosome; or it can be 'unbalanced,' meaning that genes have been deleted (lost) or duplicated. A balanced inversion causes no problems. An unbalanced inversion is often associated with problems such as developmental delay, mental retardation, and birth defects.

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Reviewed on 12/12/2018