Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …

Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …

Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

22q11. 2 deletion syndrome (22q11. 2 DS) is the most common microdeletion syndrome and
is underdiagnosed in diverse populations. This syndrome has a variable phenotype and …

Objective To investigate the clinical manifestations at diagnosis and during follow-up in
patients with 22q11. 2 deletion syndrome to better define the natural history of the disease …

Rare diseases (RDs) are a large number of diverse conditions with low individual
prevalence, but collectively may affect up to 3.5–5.9% of the population. They have …

Abstract Although 22q11. 2 deletion syndrome (22q11. 2DS) is the most recurrent human
microdeletion syndrome associated with a highly variable phenotype, little is known about …

With every passing year, more and more people learn that they or their young or unborn
child carries a genetic mutation. But what does this mean for the way we understand a …

The 22q11. 2 Deletion Syndrome (22q11. 2DS) is the most common microdeletion
syndrome with an estimated prevalence of 1: 4,000 live births. 22q11. 2DS is known to have …

Abstract Deletion of chromosome 22q11. 2 is considered one of the most frequent genetic
causes of cardiovascular malformations. It is frequently associated with conotruncal …