[Source: Medical News Today]
by Lori Smitth, BSN, MSN, CRNP
DiGeorge syndrome, otherwise referred to as 22q11.2 deletion syndrome, is a chromosomal disorder that typically affects the 22nd chromosome at the q11.2 location, with as many as 90% of cases exhibiting this deletion feature.1-3
This condition has also been known as velocardiofacial syndrome, conotruncal syndrome, Shprintzen syndrome and CATCH22, as well as many others.1-3
Experts estimate that DiGeorge syndrome affects 1 in 4,000 people. However, due to variability in presenting features, many people may be underdiagnosed or misdiagnosed.2,3
DiGeorge syndrome causes several body systems to develop poorly and can lead to medical problems as varied as heart defects, behavioral problems and a cleft palate.