Dictionary of Human Evolution and Biology

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DiGeorge Syndrome

Heritable, phenotypically variable condition involving dysmorphologies described by the medical acronym CATCH22: cardiac defects, abnormal facies, thymus defects with los of T cell function, cleft palate with speech impairment, and hypocalcemia. Death usually occurs before age two. The cause of the condition in type I is a microdeletion of a portion of chromosome 22; the symptomatic variability is directly related to the size of the deletion. Type II is due to a microdeletion in chromosome 10.

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