Di George syndrome

Di George syndrome

Del22q11.2 syndrome, a genetic disorder featuring many abnormalities including heart defects, facial anomalies, and congenital absence of the PARATHYROID GLANDS and the THYMUS, presenting as muscle spasms (TETANY) in a new-born baby. The associated T cell immune deficiency can be reversed by a fetal thymus transplant. The condition is due to a developmental anomaly involving the primitive structure in the neck from which both the parathyroid glands and the thymus develop. Some cases of the syndrome have recently been shown to be due to a mutation of the gene TBX1 on the chromosome. See T-box gene family. (Angelo Mario Di George, American paediatrician, b. 1921).
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3) Unless a previous genetic study is available, any blood products that need to be administered to patients with truncus arteriosus shall undergo prior radiation, because of the strong association with Di George syndrome and Tlymphocytes deficiency.
It is also been reported with Di George syndrome which include Hypertelorism, low set ears, Micrognathia, small fish like mouth, short down slanting palpebral fissure, absent pinna, cleft lip and high arch palate .
Kate's son was diagnosed with Di George syndrome, a condition that occurs when a part of the DNA on chromosome 22 is missing.
Di George syndrome is an inherited condition that lies at the more severe end of a spectrum of syndromes that occur when a part of the DNA on chromosome 22 is missing.