22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.

[22q11.2 deletion syndrome]

The 22 q 11 .2 deletion syndrome (22 q 11 DS ) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q ) 11 .2 band . The 22 q 11 DS is among the most clinically variable syndromes , with more than 180 features related with the deletion , and is associated with an increased risk of psychiatric disorders , accounting for up to 1 %-2 % of schizophrenia cases . In recent years , several genes located on chromosome 22 q 11 have been linked to schizophrenia , including those encoding catechol-O-methyltransferase and proline dehydrogenase , and the interaction between these and other candidate genes in the deleted region is an important area of research . It has been suggested that haploinsufficiency of some genes within the 22 q 11 .2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia . Moreover , an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter , and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22 q 11 DS patients . Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia , as well as a predictive prodrome that can be preventively treated during childhood and adolescence . In this review , we summarize recent data about the 22 q 11 DS , in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion , underlining the recent advances in the studies about the genetic architecture of the syndrome .

Diseases
Validation

Diseases presenting "long arm" symptom

22q11.2 deletion syndrome

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

cohen syndrome

dedifferentiated liposarcoma

kabuki syndrome

liposarcoma

monosomy 21

wolf-hirschhorn syndrome

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