22q11 microdeletion syndrome

Prevalence of 22q11 microdeletion.

Microdeletion 22q11 and oesophageal atresia.

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q...

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes

RATIONALE 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative gen...

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

DiGeorge (DGS) and velocardiofacial (VCFS) syndromes are frequently associated with microdeletions within the 22q 11 region. The phenotypic spectrum is broad and microdeletions have been found in asymptomatic adults and children with quite subtle manifestations. The severity of the phenotype does not correlate with the extent of the deletion. The 22ql 1 region contains moderately repetitive seq...

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.

Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a significant cause of morbidity and mortality. The phenotypic variability suggests the presence of modifiers. Polymorphisms in the VEGFA gene, coding for ...