U01.17.035 DiGeorge Syndrome (22q11 Deletion Syndrome)
Study this flashcard to identify the genetic defect, embryologic origin, and key clinical features of DiGeorge Syndrome. Recall how a 22q11 deletion leads to failure of the 3rd and 4th pharyngeal pouches to develop, causing thymic and parathyroid hypoplasia with recurrent infections and hypocalcemia.
Question categories All Questions, U01.17 Review condition and pathophysiology, USMLE Step 1 Review Series
Question tags 22q11 deletion, 3rd and 4th pharyngeal pouch, CATCH-22, cleft palate, congenital disorder, Congenital Heart Defects, DiGeorge syndrome, DiGeorge syndrome review, Embryology, genetic syndrome, hypocalcemia, immune deficiency, immunology, Medical Flashcards, parathyroid hypoplasia, recurrent viral infections, T-cell deficiency, thymic aplasia, USMLE Step 1
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