Deletion 22q11 and isolated congenital heart disease.
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.
Digilio
M Cristina
MC
Marino
Bruno
B
Dallapiccola
Bruno
B
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