一例Williams-Beuren综合征孕妇的产前诊断  

Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome

作　　者：席娜[1] 张竹 汪雪雁[1] 孙玲玲[1] 宋筱[1] 李胜梅[3] 刘珊玲 Wang Xueyanl,Sun Lingling;Song Xiao;Li Shengmei;Liu Shanling(Department of Medical Genetics and Prenatal Diagnosis,Sichuan Provincial Hospital for Women and Children,Chengdu,Sichuan610045,China;Department of Obstetrics and Gynecology,Key Laboratoryof Birth Defects and Related Diseases of Women and Children of the Ministry of Education,West ChinaSecond Hospital,Sichuan University,Chengdu,Sichuan610041,China;Department of Family Planning,Sichuan Provincial Hospital for Women and Children,Chengdu,Sichuan610045,China)

机构地区：[1]四川省妇幼保健院医学遗传与产前诊断科,成都610045 [2]四川大学华西第二医院妇产科教研室、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [3]四川省妇幼保健院计划生育科,成都610045

出　　处：《中华医学遗传学杂志》2019年第5期495-497,共3页Chinese Journal of Medical Genetics

摘　　要：目的 为1例孕妇及其胎儿提供遗传学诊断.方法 应用染色体G显带和染色体微阵列技术对1例具有特殊面容及认知缺陷的孕妇及其发育迟缓的胎儿进行遗传学诊断.结果 孕妇染色体核型分析未见异常,微阵列分析提示其染色体7q11.23区存在1423 kb的缺失,胎儿7q11.23区存在1530 kb的缺失.孕妇和胎儿均被确诊为Williams-Beuren综合征.结论 提高对Williams-Beuren综合征临床特征的认识,并合理选择遗传学检测方法对确诊本病有重要的价值.Objective To carry out genetic diagnosis for a pregnant woman and her fetus.Methods Chromosome G-banding and microarray analysis were used to analyze the woman featuring dysmorphism and recognition defect and her fetus featuring developmental retardation.Results The karyotype of the woman was normal,but chromosome microarray analysis showed that she has carried a 1423 kb deletion at 7q11.23 region and her fetus has carried a 1530 kb deletion at the same region.Both individuals were diagnosed as Williams-Beuren syndrome.Conclusion Familiarity with its clinical features and proper selection of genetic testing method are crucial for the diagnosis of Williams-Beuren syndrome.

关 键 词：Williams-Beuren综合征 染色体微阵列分析 染色体核型分析 产前诊断 

分 类 号：R73[医药卫生—肿瘤]