腭心面综合征临床特征和遗传学的研究进展  

Research advances on the characterization of the clinical features and genetics of palatocardiofacial syndrome

作　　者：周玉兰 石冰[1] 贾仲林[1] Zhou Yulan;Shi Bing;Jia Zhonglin(State Key Laboratory of Oral Diseases&National Clinical Research Center for Oral Diseases&Dept.of Cleft Lip and Palate Surgery,West China Hospital of Stomatology,Sichuan University,Cheng‐du 610041,China)

机构地区：[1]口腔疾病研究国家重点实验室,国家口腔疾病临床医学研究中心,四川大学华西口腔医院唇腭裂外科,成都610041

出　　处：《国际口腔医学杂志》2021年第5期506-511,共6页International Journal of Stomatology

基　　金：国家自然科学基金(81600849)。

摘　　要：腭心面综合征(VCFS)是在人类中发现的最常见的多发性异常综合征之一,主要与22号染色体长臂11区2带的染色体微缺失有关。患者存在腭部、心脏、颅面、免疫等多方面的复杂发育畸形。本文就近年来VCFS的临床表现和遗传特征的研究进展作一综述。Velo cardio facial syndrome(VCFS), with 22 q11.2 deletion, is one of the most common multiple abnormal syndromes. VCFS is the most common hereditary disease in paediatric otolaryngology. Patients exhibit complex developmental malformations of the palate, heart, craniofacial, immune system and other organs. This review aimed to summarize recent advances in the characterization of the clinical manifestations and genetic characteristics of VCFS.

关 键 词：腭心面综合征 临床特征 遗传学特征 

分 类 号：R34[医药卫生—基础医学]