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About:
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Velocardiofacial syndrome (VCFS; which includes DiGeorge syndrome and Shprintzen syndrome) is characterised by structural heart problems, cleft lip and/or palate, renal problems, distinctive facial features and learning difficulties with mild intellectual delay. The severity of these signs and symptoms may vary between affected individuals. In most people with VCFS there is a chromosomal deletion or missing part of the long ‘q’ arm of chromosome 22 in the region known as 22q11. This is usually a sporadic (random or chance) event, and the individual affected is the only person in the family with the deletion. More rarely, the partially deleted chromosome has been inherited from a parent. In general, the genetic material that is missing is very small (microdeletion). In a family where there is a chromosomal deletion at 22q11, the inheritance of this deletion follows an autosomal dominant pattern of genetic inheritance. |
