DiGeorge Syndrome
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This syndrome was described in the 1960s. It is due to a 22q11.2 deletion with autosomal dominant inheritance. 93% are de novo mutations with 7% inheriting from their parents. Most are rather small and have learning difficulties. 75% have a cardiac problem - usually tetralogy of Fallot, interrupted aortic arch or truncus arteriosus. They may have a speech impediment and feeding difficulties. Some also have an immune deficiency thus infections, vaccinations and blood transfusions can cause problems and especially in the newborn period irradiated blood products should be used. Follow this link for more general details about DiGeorge Syndrome on Online Mendelian Inheritance in Man (OMIM) or GeneTests |
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Heart ProblemsThe heart problems that can occur include tetralogy of Fallot, pulmonary atresia-VSD, truncus arteriosus and sometimes simpler lesions like a ventricular septal defect. These are usually treatable with surgery. |
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This page was last edited 19/2/2004 |
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