DiGeorge Syndrome

DiGeorge Syndrome:

  • Cellular immunodeficiency disorder caused by deletion of a segment of chromosome 22 (22q11), affecting endodermal derivatives of the third and fourth pharyngeal pouches.
  • Clinical Features (Remembered by CATCH):
    • C – Cardiac defects
    • A – Abnormal facies
    • T – Thymic aplasia
    • C – Cleft palate
    • H – Hypocalcemia
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