DiGeorge syndrome

特許 権利維持 22q11.2 deletion syndrome which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly,[2][3] velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia, is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000.[4] The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge.[5][6] 22q11 deletion is also associated with truncus arteriosus (see TOF).