摘要目的 为1例具有Williams-Beuren综合征患儿生育史的孕妇提供产前诊断.方法 采用常规G显带和微阵列比较基因组杂交(array comparative genomic hybridization,aCGH)技术对胎儿及其父母进行分析.结果 胎儿及其父母的染色体均未见异常.aCGH检测结果显示胎儿染色体2p13.3-p12区存在5.09Mb的杂合缺失,其父母未检测到染色体微重复/微缺失.结论 胎儿2p13.3-p12区的微缺失为新发突变,该区域中的SPR与DCTN1为剂量敏感基因,其缺失可能具有致病性.

abstractsObjective To provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy.Methods The karyotypes of the fetus and his parents were analyzed with routine G-banding.Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).Results No karyotypic abnormality was detected for the fetus and his parents,aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus.Conclusion The 2p13.3-p12 microdeletion carried by the fetus was de novo.As it has involved dosage-sensitive genes SPR and DCTN1,the deletion is probably pathogenic.