Di George Syndrome
22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, 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 q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. It has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus (see TOF).
Read more about Di George Syndrome: Presentation, Nomenclature, Symptoms, Cause, Treatment, Diagnosis and Testing, Genetics, Epidemiology
Famous quotes containing the word syndrome:
“Women are taught that their main goal in life is to serve others—first men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to one’s own interests and desires. Carried to its “perfection,” it produces the martyr syndrome or the smothering wife and mother.”
—Jean Baker Miller (20th century)