Medical Definition of Pallister-Killian syndrome

  • 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.

Pallister-Killian syndrome: A condition with multiple malformations at birth and mental retardation due to isochromosome 12p mosaicism (an abnormal chromosome #12 in some cells).

Reviewed on 9/7/2018

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