Murphy Kieran C
Division of Psychological Medicine, Institute of Psychiatry, King's College London, De Crespigny Park, London SE5 8AF, UK.
Lancet. 2002 Feb 2;359(9304):426-30. doi: 10.1016/S0140-6736(02)07604-3.
Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. The VCFS phenotype is complex, with multiple congenital abnormalities affecting several tissues and organs, many of which are derived from neural crest cells. Although phenotypic variability occurs, individuals with VCFS have high rates of psychiatric disorder, especially schizophrenia. Additionally, an increased prevalence of chromosome 22q11 deletions has been reported in populations of people with schizophrenia. Furthermore, results of molecular genetic studies suggest that a schizophrenia susceptibility locus maps to chromosome 22q. These data indicate that aside from being the child of two parents with schizophrenia or the monozygotic co-twin of an affected individual, VCFS and deletion 22q11 represents the highest known risk factor for the development of schizophrenia. Since the entire sequence of chromosome 22 has now been identified, the study of VCFS offers a timely and uniquely powerful opportunity to identify susceptibility genes for schizophrenia in the general population. Furthermore, the strength of the association between schizophrenia and VCFS has important implications for the clinical management of these disorders.
腭心面综合征（VCFS）是人类已知最常见的间质性缺失，与22号染色体q11带的染色体微缺失有关。VCFS的表型复杂，有多种先天性异常影响多个组织和器官，其中许多源自神经嵴细胞。尽管存在表型变异，但VCFS患者患精神疾病尤其是精神分裂症的几率很高。此外，在精神分裂症患者群体中，已报告22q11染色体缺失的患病率有所增加。此外，分子遗传学研究结果表明，一个精神分裂症易感基因座定位于22号染色体q区。这些数据表明，除了是两个患有精神分裂症的父母的孩子或受影响个体的同卵双胞胎外，VCFS和22q11缺失是已知的精神分裂症发生的最高风险因素。由于22号染色体的完整序列现已确定，对VCFS的研究为在普通人群中鉴定精神分裂症的易感基因提供了一个及时且独特有力的机会。此外，精神分裂症与VCFS之间关联的强度对这些疾病的临床管理具有重要意义。
