中国当代儿科杂志Issue(12)：1267-1272,6.DOI:10.7499/j.issn.1008-8830.2015.12.002
4例Williams-Beuren综合征家系遗传学诊断与产前诊断
Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome
刘洋 1徐志勇 2吴维青 3罗福薇 3谢建生3
作者信息
- 1. 南方医科大学研究生学院，广东 广州 518010
- 2. 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，广东 深圳 518000
- 3. 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，广东 深圳 518000
- 折叠
摘要
Abstract
Williams-Beuren syndrome is a common chromosome microdeletion syndrome. Early diagnosis and treatment are very helpful for patients and their families. This study identiifed the chromosome karyotype in one fetus with ultrasonography abnormalities and three children with developmental disorders from four families. This provided guidance for subsequent pregnancy and prenatal diagnosis by using routine G-banding chromosome karyotyping analysis, multiplex ligation-dependent probe ampliifcation (MLPA) and array comparative genomic hybridization (array-CGH). In one amniotic lfuid sample from a pregnant woman with fetal abnormalities on an ultrasound screen and three peripheral blood samples from three children with developmental disorders, the decreased signal of ELN gene probes at 7q11.23 and heterozygous deletions at 7q11.23 were detected by MLPA and array-CGH analysis. The laboratory genetic tests of amniotic lfuid samples were normal when the mothers from the four families became pregnant again. It was concluded that MLPA and array-CGH are rapid and accurate tools for the diagnosis of Williams-Beuren syndrome and can provide more information for clinical genetic counseling.关键词
Williams-Beuren综合征/多重连接依赖探针扩增技术/微阵列比较基因组杂交技术Key words
Williams-Beuren syndrome/Multiplex ligation-dependent probe amplification/Array comparative genomic hybridization引用本文复制引用
刘洋,徐志勇,吴维青,罗福薇,谢建生..4例Williams-Beuren综合征家系遗传学诊断与产前诊断[J].中国当代儿科杂志,2015,(12):1267-1272,6.
