Wu Dong, Wang Tao, Hou Qiaofang, Li Tao, Wang Xin, Zhang Chaoyang, Yang Yanli, Liu Hongli, Liao Shixiu
Henan Provincial People's Hospital; Medical Genetics Institute of Henan Province; People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):418-421. doi: 10.3760/cma.j.issn.1003-9406.2018.03.025.
To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism.
The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH).
The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus.
The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.
对一名患有心内膜垫缺损的胎儿进行产前诊断并探究其机制。
采用常规G显带技术分析胎儿及其父母的染色体核型。同时运用阵列比较基因组杂交技术（aCGH）对他们的基因组DNA进行分析。
发现胎儿及其母亲的染色体核型为46, XX, inv(8)(p21q24.1)，而父亲未检测到染色体核型异常。aCGH检测到胎儿8p23.3 - p22区域有15.14 Mb的缺失以及8q24.23 - q24.3区域有6.87 Mb的重复。
该胎儿被诊断为Rec8综合征。其异常染色体来源于母亲携带的inv(8)。GATA4和SOX7可能是该胎儿心内膜垫缺损的关键基因。
