Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis
نویسندگان
چکیده
منابع مشابه
Background Velo-cardio-facial syndrome (VCFS) is associatedwith interstitial deletions of chromosome 22q11.About 30% of patientswithVCFS
Declaration of interest Funding fromthe PPPHealthcare Medical Trust, London,UK.Collection of probands in Bulgaria fundedby the Janssen Research Foundation and inthe UK by the Medical Research Council. Velo-cardio-facial syndrome (VCFS) is a genetic disorder associated with characteristic dysmorphology, cleft palate, cardiac anomalies and major psychiatric disorders, including schizophrenia (Shp...
متن کاملVelo-cardio-facial syndrome: 30 Years of study.
Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlacková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features...
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We studied the functional neuroanatomy of social behaviour in velo-cardio-facial syndrome (VCFS) using a facial emotional processing task and functional magnetic resonance imaging in adults with this syndrome and controls matched for age and IQ. The VCFS group had less activation in the right insula and frontal brain regions and more activation in occipital regions. Genetically determined abnor...
متن کاملExpression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
The murine Cdcrel-1 (Pnutl1) gene belongs to the family of septins, which are thought to be involved in cytokinesis in yeast, Drosophila and vertebrates. Recent studies implicate Cdcrel-1 in the regulation of vesicle transport in neurons of the adult brain. The human homologue, hCDCREL-1 maps to chromosome 22q11.2, a region commonly deleted in patients displaying velo-cardio-facial syndrome (VC...
متن کاملLinkage studies suggest a possible locus for bipolar disorder near the velo-cardio-facial syndrome region on chromosome 22.
Velo-cardio-facial syndrome (VCFS) is a congenital anomaly characterized by multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabilities, that results from a microdeletion of chromosome 22q11. An increased prevalence of psychiatric illness has been observed, with both schizophrenia and bipolar disorder commonly being diagnosed. For these reasons, the VCFS region is an inter...
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ژورنال
عنوان ژورنال: British Journal of Psychiatry
سال: 2003
ISSN: 0007-1250,1472-1465
DOI: 10.1192/bjp.183.5.409