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DiGeorge Syndrome
Chromosome 22q11.2 Deletion Syndrome; Hypoplasia of Thymus and Parathyroids; Velo-Cardio-Facial Syndrome; Syndrome, DiGeorge; Syndrome, Velo-Cardio-Facial; Syndrome, Velocardiofacial; Velo Cardio Facial Syndrome
Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 21q11.2 or mutation in the TBX1 gene.