What are the 2 22q11 deletion syndromes? What is the presentation? What branchial pouch is the problem?
Microdeletion at 22q11.2
1. DiGeorge syndrome - thymic, parathyroid and cardiac defects
2. Velocardiofacial - palate, facial and cardiac defects
Presentation = Cleft palate, Anormal facies, Thymic aplasia (leads to T cell deficiency), Cardiac defects, Hypocalcemia (secondary to parathyroid aplasia) = CATCH-22
Problematic branchial pouches = 3rd and 4th