中文摘要：

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 genomichybridization，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 nutuber 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；io）（q35；p13）；aCGH检测发现胎儿5号染色体存在1．68Mb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1．44Mb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。

英文摘要：

Objective To use combined G-banding and array-comparative genomic （aCGH） for the prenatal diagnosis of a fetus with 5q35 deletion syndrome. Methods hybridization Chromosomal karotypes of the fetus and parents were analyzed with G-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