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首页> 外文期刊>The British journal of psychiatry : >Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.
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Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.

机译：速心面部综合征：一种用于理解精神分裂症的遗传学和发病机理的模型。

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BACKGROUND: Individuals with velocardio-facial syndrome (VCFS), a genetic disorder associated with microdeletions of chromosome 22q11, are reported to have high rates of psychiatric disorder, particularly schizophrenia. AIMS: To review the evidence for an association between VCFS and schizophrenia: to outline recent neuropsychological, neuroanatomical and genetic studies of individuals with VCFS; and to make recommendations for future work. METHOD: A selective literature review was undertaken. RESULTS: Individuals with VCFS have high rates of psychotic disorders, particularly schizophrenia. In addition, specific neuropsychological and neuroanatomical abnormalities have been reported although it is unclear whether such abnormalities relate to the presence of psychiatric disorder in affected individuals. CONCLUSIONS: Deletion of chromosome 22q11 represents one of the highest known risk factors for the development of schizophrenia. It is likely that haploinsufficiency (reduced gene dosage) of a neurodevelopmental gene or genes mapping to chromosome 22q11, leading to disturbed neuronal migration, underlies susceptibility to psychosis in VCFS.
机译：背景：据报道，患有速发性面部综合征（VCFS）的人患有与22q11号染色体微缺失有关的遗传性疾病，其精神病尤其是精神分裂症的发病率很高。目的：回顾VCFS和精神分裂症之间关联的证据：概述近期对VCFS患者的神经心理学，神经解剖学和遗传学研究;并为以后的工作提出建议。方法：进行了选择性文献复习。结果：VCFS患者的精神病发病率很高，尤其是精神分裂症。另外，尽管尚不清楚这种异常是否与受影响个体中精神病的发生有关，但已报道了特定的神经心理学和神经解剖学异常。结论：染色体22q11的缺失代表了精神分裂症发展的最高已知危险因素之一。一个或多个神经发育基因的单倍剂量不足（降低的基因剂量）可能映射到22q11号染色体，导致神经元迁移受到干扰，这可能是VCFS对精神病的易感性。

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