Cardio facial velo

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Try out PMC Labs and tell us what you think. Learn More. Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. Velo-cardio-facial syndrome has an expansive phenotype with more than clinical features described that involve essentially every organ and system.
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Velo-Cardio-Facial Syndrome

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About Velocardiofacial Syndrome

Try out PMC Labs and tell us what you think. Learn More. Velocardiofacial syndrome VCFS also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia.
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High Rates of Schizophrenia in Adults With Velo-Cardio-Facial Syndrome

Although these two individuals manifest the typical facial and cognitive features of VCFS, they are discordant for the cardiovascular and palatal anomalies, which are seminal manifestations of the disorder. Previously, this degree of phenotypic variability had not been well appreciated within a single family segregating the VCFS deletion. A review of other familial cases of VCFS suggests that the family described in this article is not atypical. Because a microdeletion would be expected to be inherited without alteration within individual families, the phenotypic variability observed in these families appears to be an intrinsic quality of the syndrome and not wholly due to genetic heterogeneity. Velo-cardio-facial Syndrome : Intrafamilial Variability of the Phenotype.
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Arch Gen Psychiatry. Background Velo-cardio-facial syndrome VCFS , a syndrome characterized by an increased frequency of schizophrenia and bipolar disorder, is associated with small interstitial deletions of chromosome 22q The individuals with schizophrenia had fewer negative symptoms and a relatively later age of onset compared with those with schizophrenia and without VCFS.
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