Antonenko V G, Ivanov V I, Konstantinova L M, Levina L Ia, Mglinets V A
Vestn Ross Akad Med Nauk. 2000(5):46-50.
Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.
将分子遗传学技术引入临床实践,使得检测22q11.2缺失成为可能,这是“22q11.2缺失综合征(CATCH 22)”中先天性心血管疾病的一个病因。作者采用综合(临床、综合征学、分子遗传学和计算机断层扫描)方法来研究这组综合征,从而能够识别出具有CATCH 22高风险的患者。本文列出了与CATCH 22表现相关的候选基因清单,以及模型对象中病理表型发展的数据。