The 22q11. 2 deletion is one of the most common genetic microdeletions, affecting
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …

Hemizygous deletion of 22q11 affects approximately 1: 4000 live births and may give rise to
many different malformations but classically results in a constellation of phenotypes that …

The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human
disorder, usually associated with deletions of chromosome 22q11. The genetic basis for the …

Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo
hemizygous 22q11. 2 deletions and is characterized by malformations attributed to …

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly
and velocardiofacial syndrome (DGA/VCFS; the “22q11 deletion syndrome”) indicates a …

The majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome
(VCFS) have deletions of chromosomal region 22q11. 2. The abnormalities observed in …

The vast majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome
(VCFS) have deletions of chromosomal region 22q11. 2. These patients exhibit broad and …

DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies,
craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from …

Abstract The 22q11 deletion syndrome (22q11DS; DiGeorge/velo-cardio-facial syndrome)
primarily affects the structures comprising the pharyngeal arches and pouches resulting in …

The research interest in DiGeorge syndrome (DGS) is partly due to its clinical importance.
However, fundamental questions of genetics and developmental biology related to DGS are …