1例以高血压就诊的Williams-Beuren综合征的临床与遗传学分析  

Clinical and genetic analysis of a case of Williams-Beuren syndrome with hypertension

作　　者：刘杰[1] 袁涛 王芳[1] 赵雯娜[1] 王文楠 李晓云 刘福颂 李荣[1] Liu Jie;Yuan Tao;Wang Fang;Zhao Wenna;Wang Wennan;Li Xiaoyun;Liu Fusong;LI Rong(Qingdao Third People's Hospital Qingdao,Shandong Province,China,266041)

机构地区：[1]青岛市第三人民医院心内一科,山东青岛266041

出　　处：《青岛医药卫生》2024年第4期303-307,共5页Qingdao Medical Journal

摘　　要：目的通过分析1例Williams-Beuren综合征患者的临床特点及分子机制,提高心内科医师对该疾病的认识。方法应用高通量全外显子组检测、染色体拷贝数变异检测对患者进行病因学检查。结论染色体7q11.23区域25~27个相邻基因的缺失是WBS综合征的致病原因,导致了心血管及泌尿系畸形等复杂的临床表现。Objective To analyze the clinical characteristics and molecular mechanism of a patient with Williams-Beuren syndrome,and to improve the understanding of this disease among cardiologists.Methods High-throughput whole-exome and chromosome copy number variation were used to examine the etiology of the patients.Conclusion The deletion of 25~27 adjacent genes in chromosome 7Q11.23 region is the pathogenic cause of WBS syndrome,leading to complex clinical manifestations such as cardiovascular and urinary malformations.

关 键 词：Williams-Beuren综合征 染色体缺失 高血压 

分 类 号：R544.1[医药卫生—心血管疾病]