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Pathology Misc. a2fc266b

All of the following are seen in 22q 11.2 deletion syndrome except

A
B cell immunodeficiency
B
Learning disabilities
C
Increased incidence of psychiatric disorders like schizophrenia in adulthood
D
Facial abnormalities
High-Yield Explanation
(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.

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