Medical Definition of Genetic anticipation

  • 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.

Genetic anticipation: A remarkable phenomenon in which a genetic disease appears earlier with each succeeding generation. Anticipation was once thought not to exist in genetics. It was chalked off as a meaningless statistical artifact. However, anticipation has now been proven to occur in a large number of important genetic disorders, including Huntington disease and myotonic dystrophy. In molecular terms, anticipation is due to the expansion of a trinucleotide repeat sequence in the DNA. This phenomenon also occurs in the fragile X syndrome, the most common inherited form of mental retardation.

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Reviewed on 12/21/2018

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