[阵列比较基因组杂交技术在1例5q35缺失综合征产前诊断中的应用]
[Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome].
作者信息
Feng Zhanqi, Hu Heping, Mao Changqing, Wang Dingzhan, Liu Lei, Liu Shiling, Jing Zhian, Liu Hongyan
机构信息
Department of Urology, the First People's Hospital of Zhengzhou, Zhengzhou,Henan 450004 China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):240-243. doi: 10.3760/cma.j.issn.1003-9406.2017.02.020.
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 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.
目的
运用联合G显带和阵列比较基因组杂交技术（aCGH）对一名患有5q35缺失综合征的胎儿进行产前诊断。
方法
采用G显带分析技术分析胎儿及其父母的染色体核型。运用aCGH检测微小染色体结构异常。
结果
胎儿的核型确定为46, XY, t(5;10)(q35;p13)，其父母的核型正常。aCGH检测发现5q35.2q35.3处有一个1.68 Mb的新发缺失以及10p14p13处有一个1.44 Mb的重复。
结论
aCGH在绘制染色体畸变图谱方面具有更高的分辨率和准确性，是G带核型分析的有益补充。
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