Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families.

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

Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, ...

A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. Classic evaluations of genetic ...

May 12, 2011 · 22q11.2 deletions have been identified in most patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome ...

We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in ...

Jan 8, 2015 · 22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births.

Aug 3, 2022 · 22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22.