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People with DiGeorge Syndrome have abnormalities in their thymus gland, the organ located in the upper chest where T cells develop. This leads to impairments in T-cell production.
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Most people with DiGeorge Syndrome have mutations in their chromosome 22 at a position called 22q11.2. These mutations lead to abnormal migration of certain cells during fetal development, which can affect multiple organs.
Signs and symptoms
Children with DiGeorge Syndrome can exhibit these symptoms:
DiGeorge Syndrome may be suspected at birth in children that display the physical signs and symptoms and also may show up during routine blood tests that reveal low calcium levels. The disease can be confirmed through genetic tests that look for mutations in chromosome 22q11.2.
Treatment for DiGeorge Syndrome varies according to what organs or tissues are affected. Therapy can include these options:
Last Updated July 17, 2012
Last Reviewed October 14, 2010