DiGeorge Syndrome

DiGeorge syndrome is a rare congenital disease that affects an infant's immune system and that is due to a large deletion from chromosome 22. The syndrome is the absence or underdevelopment of the thymus and parathyroid glands. DiGeorge syndrome is also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome, because the congenital abnormalities occur in areas known as the third and fourth pharyngeal pouches, which later develop into the thymus and parathyroid glands.

Treatment of the low calcium and hypoparathyroidism may involve calcium supplementation and replacement of the missing parathyroid hormone. Therapy for DiGeorge syndrome is aimed at correcting the defects in the organs or tissues that are affected. Therefore, therapy depends on the nature of the different defects and their severity.

Recently, MLPA–HD (multiplex ligation dependent probe amplification with high?density) was reported16as a technique that detects copy number changes at 37 loci on velocardiofacial syndrome, the cat eye syndrome, and more distal regions in 22q11 that have been deleted. Novel and variant chromosome 22 aberrations have been detected by this methodology along with the common recurrent deletions associated with DiGeorge syndrome and velocardiofacial syndrome.