微阵列比较基因组杂交技术产前诊断5q35缺失综合征一例

摘要

目的 对一例5q35缺失综合征胎儿进行产前诊断,探讨G显带联合微阵列比较基因组杂交技术(array comparative genomic hybridization,aCGH)在产前诊断超声异常胎儿中的应用价值.方法 应用常规G显带分析胎儿及其父母的染色体核型,应用aCGH技术分析胎儿及其父母的DNA拷贝数变异(copy number variations,CNVs)并对核型分析结果进行精确定位.结果 胎儿父母外周血染色体核型分析及aCGH分析结果均未见异常,胎儿核型为46,XY,t(5;10)(q35;p13);aCGH检测发现胎儿5号染色体存在1.68 Mb的新发缺失,缺失区位于5q35.2q35.3,为5号染色体长臂缺失综合征,10号染色体存在1.44 Mb的染色体重复,重复区位于10p14p13.结论 aCGH技术具有更高的分辨率和准确性,是G显带核型分析的有益补充,可应用于临床分子细胞遗传诊断,特别是对缺失或者重复片段较小的非平衡易位患者的诊断中.%Objective To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.Methods Chromosomal karotypes of the fetus and parents were analyzed with C-banding analysis.aCGH was performed to detect minor chromosomal structural abnormalities.Results The karyotype of the fetus was ascertained as 46,XY,t(5;10) (q35;p13),and the karyotypes of the parents were normal.aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.Conclusion aCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.