释义 |
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). |