DiGeorge syndrome is a genetic mutation on 22nd chromosome that results in deletion of a portion of the chromosome.It is an autosomal dominant immunodeficiency syndrome.This sundrome results in the poor development of several body systems. The main cause is shrunken or missing thymus gland in the body of an individual. The 22nd chromosome comprises of 500-800 genes that help in the formation of thymus gland and this syndrome hinders the process of development of the gland. DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22. DiGeorge syndrome is a genetic disorder that's usually noticeable at birth. Children with the condition can have heart defects, learning difficulties, a cleft palate and potentially many other problems.
The piece of missing chromosome that causes DiGeorge syndrome is so small that it cannot be seen under a microscope. Instead, a special test called the FISH test (fluorescence in situ hybridisation) will be needed to diagnose the condition. This test shows whether the region of chromosome 22 is present. If only one copy of chromosome 22 'lights up' with fluorescent DNA dye, rather than both copies, the test is positive for 22q11 deletion. There's no cure for DiGeorge syndrome, but many of the problems experienced by people with the condition can be monitored and treated if necessary. Physiotherapy can be helpful for physical problems and also speech therapy and regular hearing and eye tests heart and kidney scans are recommended.
DiGeorge syndrome usually occurs in one infant out of 4000 childbirths.It is a lifelong condition and cannot be completely cured.Approximately one third of affected individuals experience recurring infections. Generally 1-2% of patients with DGS completely lack T-cells. This is a serious, potentially fatal, condition. Immunologic care for patients with DGS includes monitoring the overall immune system including the numbers and function of T-lymphocytes. Patients who have initially been deemed immunocompetent but then develop frequent, severe or unusual infections should have their immune system reevaluated