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healthjade.net
Microdeletion syndrome definition, causes, symptoms, diagnosis, treatment & prognosis
Learn about microdeletion syndromes. Causes, symptoms, diagnosis, treatment & prognosis of chromosome deletion syndromes
Feb 14, 2020
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Top videos
0:09
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ASAD KHAN on Instagram: "DiGeorge Syndrome (22q11.2 Deletion Syndrome) A genetic microdeletion syndrome causing **defects in structures derived from the 3rd and 4th pharyngeal pouches**. * **Main Cause:** **Microdeletion at chromosome 22q11.2** (autosomal dominant). * **Key Presentations (CATCH-22):** * **C**ardiac defects (Tetralogy of Fallot, truncus arteriosus) * **A**bnormal facies * **T**hymic aplasia → **T-cell deficiency** (recurrent viral/fungal infections) * **C**left palate * **H**ypoc
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