title: Deletion 22q11 and isolated congenital heart disease.
abstract: The real prevalence of deletion 22 (del22) in isolated congenital heart defects is still disputed. The experience of our group suggests that patients with CHD and del22 have classic or subtle extracardiac features, so that an accurate clinical evaluation of patients with CHD is needed before stating that the defect is isolated.
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012680:Sensitivity and Specificity