What are the causes and symptoms of DiGeorge syndrome?
DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in DiGeorge syndrome patients. Although efforts have been made in the early 2000s to identify individual candidate genes for DGA, it appears that a combination of several genes in the deleted area is responsible for the disorder. Detailed genetic mapping of chromosome 22 has, however, identified a so-called DiGeorge critical region (DGCR), which has been completely sequenced. According to a 1999 study, 6% of children with DiGeorge syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pan