All of the following are seen in 22q 11.2 deletion syndrome except
Correct Answer: Learning disabilities
Description: (A) B cell immunodeficiency # DiGeorge syndrome or 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome caused by the deletion of a small piece of chromosome 22.> Salient features Mnemonic CATCH-22 of DiGeorge's syndrome, with the chromosomal abnormality is found on the 22 chromosome: Cardiac Abnormality (especially tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/Hypoparathyroidism.
Category:
Pathology
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