What is Digeorge syndrome?
A condition arising from developmental failure of the third and fourth pharyngeal pouches, resulting in the absence or underdevelopment of the thymus and parathyroid gland, associated with abnormalities of the outflow tract of the heart, distinctive facies, hypoparathyroidism, hypocalcemia with tetany, and deficiency in T-cell immunity; this is a contiguous gene deletion s. involving chromosome 22q11 with the loss of TBX1 gene; autosomal dominant inheritance.
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