DiGeorge Syndrome (DGS) is a primary immunodeficiency disease (PIDD) associated with susceptibility to infections due to poor T cell production and function. DGS is caused by abnormal cell and tissue development during fetal growth. In addition to possible immune system problems, this abnormal development can result in altered facial characteristics, abnormal gland development or defects in organs such as the heart. Treatment Mild T cell problems can often be managed with antibiotics and close follow-up. On the other extreme, cases of DGS in which T cell development is severely affected have been successfully treated with bone marrow or thymus transplant. Severe problems involving the heart or facial features may require corrective surgery.
Statistics Some conditions report a risk factor for having a condition in your lifetime. For example, cancer is widely reported to affect about 1 in 3 people in their lifetime. These rates are naturally much higher than either prevalence or incidence data, because they are effectively the cumulative risk of incidence/prevalence over multiple years. Major research Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia.
Recently, MLPA–HD (multiplex ligation dependent probe amplification with high?density) was reported16as a technique that detects copy number changes at 37 loci on velocardiofacial syndrome, the cat eye syndrome, and more distal regions in 22q11 that have been deleted. Novel and variant chromosome 22 aberrations have been detected by this methodology along with the common recurrent deletions associated with DiGeorge syndrome and velocardiofacial syndrome.