Prenatal diagnosis of 22q11 microdeletio
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Annie Levy-Mozziconacci; Caroline Piquet; Pierre-Christophe Heurtevin; Nicole Ph
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Article
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1997
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John Wiley and Sons
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English
β 36 KB
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Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10-20 per cent of cases and most of the parents with deletions are nearly asymptomatic. This phenotypic variab