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Digeorge Syndrome Background Information

Biology 10 January 2018 Digeorge Syndrome Background Information Digeorge syndrome more commonly known as 22q11 2 deletion syndrome is a disease caused by the deletion of a small part of chromosome 22 The deletion occurs near the center of the chromosome as pictured above Digeorge syndrome was first described in 1968 by Angelo Digeorge which is how it got its name Digeorge syndrome is so broad that in the beginning it went by many different names and because the signs and symptoms of 22q11 2 deletion syndrome are so varied different groupings of features were once described as separate conditions Doctors named these conditions DiGeorge syndrome velocardiofacial syndrome and conotruncal anomaly face syndrome The syndromes received the name of the author that first described each one separately Later with the advance of the diagnostic methods in the field of genetics it was found that the 22q11 2 chromosome was deleted in all of them

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