alexa DiGeorge syndrome

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DiGeorge syndrome

DiGeorge syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is one of the common microdeletion syndrome characterized by low copy repeats and the frequent deletion occurring near the middle of the dominant chromosome hence making the inheritance pattern as autosomal dominant. The effects of this syndrome are in wider range causing from autoimmune disorders to hormone deficiency. The diagnosis can be done by detection of deletion region by using FISH (Fluorescence In-Situ hybridization). There is no permanent treatment available of genetic disorders and microdeletions but the symptoms can be treated such as antibacterial drug dosages for frequent bacterial attacks and infections. Cardiac surgery is often required for congenital heart abnormalities and hypoparathyroidism causing hypocalcaemia often requires lifelong dosages of vitamin D and calcium supplements.

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