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).

单词	di george syndrome
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).
随便看	cetec cetech cetecom cetedoc index of latin forms cetef cetelem ceten cetene ceteosaurus cetep ceterach ceterach officinarum ceteribus paribus ceteris parabis ceteris parabus ceteris paribus ceterizine ce terminal services client cetes cetesb cetewayo cetf cetfa cetg ceth