Wang Lin, Wang Xiaobin, Cai Na, He Bin, Wu Qiuhua, Li Wei, Zhang Liping, Ma Xiaoping, Qiang Rong
Center of Medical Genetics, Northwest Women and Children's Hospital, Xi'an, Shaanxi 710061, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):691-694. doi: 10.3760/cma.j.issn.1003-9406.2017.05.016.
To explore the genetic etiology for fetuses featuring intrauterine growth anomalies using array-based comparative genomic hybridization (aCGH).
Forty-nine fetuses were enrolled in this study. Genomic DNA of the abortive tissues was analyzed with aCGH.
Fourteen (28.6%) samples were found with chromosomal aberrations, which included 8 chromosomal aneuploidies and 6 micro-aberrations (4 with known clinical pathogenecity and 2 with unknown clinical significance).
Numerical and structural chromosomal aberrations underlie a significant proportion of fetal growth anomalies. aCGH has provided an effective method for delineating their genetic cause.
采用基于芯片的比较基因组杂交技术（aCGH）探索宫内生长异常胎儿的遗传病因。
本研究纳入49例胎儿。采用aCGH分析流产组织的基因组DNA。
发现14例（28.6%）样本存在染色体畸变，其中包括8例染色体非整倍体和6例微畸变（4例具有已知临床致病性，2例临床意义不明）。
染色体数目和结构畸变是胎儿生长异常的重要原因。aCGH为明确其遗传病因提供了一种有效方法。
