The 22q11 microdeletion syndrome in children

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...

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...

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...

Lower prepulse inhibition in children with the 22q11 deletion syndrome.

OBJECTIVE The 22q11 deletion syndrome is associated with a range of possible physical anomalies, probable ongoing learning disabilities, and a specific constellation of neuropsychological deficits, including impairments in selective and executive visual attention, working memory, and sensorimotor functioning. It has been estimated that 25% of the children with 22q11 deletion syndrome go on to d...