Medical Definition of Paracentric chromosome inversion

  • 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.

Paracentric chromosome inversion: A basic type of chromosome rearrangement. A segment that does not include the centromere (and so is paracentric) has been snipped out of a chromosome, turned through 180 degrees (inverted), and inserted right back into its original location in chromosome. The feature that makes it paracentric is that both breaks are on the same side of the centromere so that the centromere (the point at which the chromosome attaches to the spindle) is not affected.

Any chromosome inversion can be inherited and have come from one of the parents to a child. Or the inversion can appear for the first time in a child.

An inversion can be "balanced," meaning that it has all the genes present in the normal uninverted chromosome. Or an inversion can be "unbalanced," meaning that genes been have deleted (lost) or duplicated.

A balanced inversion in a child causes no problems. An unbalanced inversion is abnormal and is often associated with problems such as development delay (and later, mental retardation) and multiple congenital anomalies (birth defects).

Inversions can also be acquired in a body cell (a somatic cell) and in the process, disrupt a gene. This can be a step involving that cell in a precancerous and cancerous process.

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Reviewed on 12/12/2018

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