应用CMA技术诊断Williams-Beuren综合征的临床特征分析

Using CMA technology to diagnose Williams-Beuren Syndrome and analyze the clinical features

目的探讨和研究Williams-Beuren综合征(Williams-Beurensyndrome,WBS)的临床及遗传学特点,提高对本病的认识,从而为本病的诊断及遗传咨询提供参考依据。方法应用染色体微阵列分析技术(chromosomemicroarray analysis,CMA)诊断出26例WBS,对其临床特点进行分析总结。结果 Williams-Beuren综合征产前诊断标本组阳性率为0.039%,外周血标本组阳性率为0.72%;染色体核型分析为阴性;10例产前阳性标本的临床表型中有4例为心血管异常,3例生长发育迟缓,1例十二指肠畸形,1例侧脑室增宽合并肾盂分离;16例外周血阳性标本中有6例为心血管异常,5例精神发育迟滞,5例生长发育迟缓,4例甲状腺功能异常,3例智力残疾,6例特殊面容。结论 CMA技术是目前诊断WBS最常用的有效诊断方法,外周血标本的阳性率显著高于产前诊断的标本,产前诊断比较困难,WBS常见的临床表现中大动脉狭窄在产前超声很少被发现,WBS临床表现复杂多样,心血管系统异常和生长发育迟缓最为常见,如产前超声发现相关异常,注意采用CMA技术排除WBS。

Objective To explore and study the clinical and genetic characteristics of Williams Beuren syndrome, improve the understanding of the disease, and provide reference for the diagnosis and genetic counseling of the disease. Methods The clinical features of 26 cases of Williams Beuren syndrome were analyzed. Results The positive rate of prenatal diagnosis of Williams Beuren syndrome was 0.039%, and the positive rate of peripheral blood was 0.72%. The karyotype analysis was negative. The clinical phenotype of 10 cases of prenatal positive samples involved cardiovascular abnormalities, 3 cases of growth retardation, 1 case of duodenal malformation, 1 case of lateral ventricle enlargement combined with pyeloplasty, 6 cases of peripheral blood positive samples were found There were 5 cases of mental retardation, 5 cases of growth retardation, 4 cases of thyroid dysfunction, 3 cases of mental retardation and 6 cases of special facial features. Conclusion CMA technology is currently the most commonly used and effective diagnostic method for the diagnosis of Williams-Beuren syndrome. The positive rate of peripheral blood specimens is significantly higher than that of prenatal diagnosis specimens. Prenatal diagnosis is difficult. In the common clinical manifestations of WBS, large artery stenosis is difficult to detect on prenatal ultrasound. The clinical manifestations of WBS are complex and diverse. Cardiovascular system abnormalities and growth retardation are the most common. For example, prenatal ultrasound finds related abnormalities. Pay attention to the use of CMA technology to exclude WBS.