This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …

Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …

The 22q11. 2 deletion syndrome (22q11. 2DS) results from non-allelic homologous
recombination between low-copy repeats termed LCR22. About 60%–70% of individuals …

Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …

Objective: Chromosome 22q11. 2 deletion syndrome (22q11. 2DS) is associated with a
more than 20-fold increased risk for developing schizophrenia. The aim of this study was to …