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Developmental aspects of 22q.11 deletion syndrome

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The velocardiofacial syndrome (VCFS) and most cases of DiGeorge syndrome are caused by a microdeletion in chromosome 22q.11. The main clinical features of VCFS are cleft palate, congenital heart defects (most commonly truncus arteriosus, interruption of the aortic arch, tetralogy of Fallot and pulmonary atresia, or ventricular septal defect), distinct facial appearance, and learning difficulties; it occurs in one in 4000 live …

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