4例Williams-Beuren综合征家系遗传学诊断与产前诊断

发布时间：2018-04-15 12:48

本文选题：Williams-Beuren综合征 + 多重连接依赖探针扩增技术　；参考：《中国当代儿科杂志》2015年12期

【摘要】：Williams-Beuren综合征是一类常见的染色体微缺失综合征,早期诊断及干预对患儿及其家庭十分重要。本研究应用染色体核型分析技术(G显带),多重连接依赖探针扩增技术(MLPA)及微阵列比较基因组杂交技术(array-CGH)对4个家系中1例超声异常的胎儿及3例发育异常患儿行染色体核型和基因组DNA分析,为这4个家庭的再生育提供指导,为产前诊断提供依据。研究结果发现1例产前超声异常孕妇羊水及3例发育异常患儿外周血MLPA分析提示染色体7q11.23区域ELN基因探针信号降低,array-CGH检测提示染色体7q11.23区域杂合缺失。4个家系中母亲再次妊娠时取羊水细胞标本行上述检测均未发现异常。研究结果提示MLPA技术及array-CGH技术能够快速、准确地诊断Williams-Beuren综合征,为临床提供更好的遗传咨询服务。
[Abstract]:Williams-Beuren syndrome is a kind of common chromosome microdeletion syndrome. Early diagnosis and intervention are very important for children and their families.In this study, chromosomal karyotype analysis technique, multiple connection-dependent probe amplification technique (MLPA) and microarray comparative genomic hybridization (CGH) were used to study one fetus with abnormal ultrasound and three children with abnormal development in 4 families.Karyotype and genomic DNA analysis,To provide guidance for the four families to reproduce, to provide the basis for prenatal diagnosis.The results showed that MLPA analysis of the peripheral blood of one pregnant woman with abnormal prenatal ultrasound and three children with developmental dysplasia showed that the signal of ELN gene probe in chromosome 7q11.23 region was decreased and the heterozygosity of chromosome 7q11.23 region was found to be missing in 4 families.No abnormality was found in the amniotic fluid samples taken during the second pregnancy.The results suggest that MLPA and array-CGH techniques can quickly and accurately diagnose Williams-Beuren syndrome and provide better genetic counseling services for clinical practice.
【作者单位】：南方医科大学研究生学院;南方医科大学附属深圳市妇幼保健院出生缺陷预防控制重点实验室;
【分类号】：R714.5;R440

【相似文献】