[两例先天性心脏缺陷合并3q微缺失胎儿的基因分析]
[Genetic analysis of two fetuses with congenital heart defects and 3q microdeletion].
作者信息
Long Wei, Gu Jiandong, Ouyang Jun, Jia Saiyu, Zhang Bin, Liu Jianbin, Yu Bin
机构信息
Department of Laboratory, Changzhou Maternal and Child Health Care Hospital affiliated to Nanjing Medical University, Changzhou, Jiangsu 213003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):240-243. doi: 10.3760/cma.j.issn.1003-9406.2018.02.021.
OBJECTIVE
To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD.
METHODS
Genomic DNA was extracted from fetal umbilical cord tissue, and chromosome copy number variations were detected by low coverage whole genome sequencing.
RESULTS
Both fetuses had microdeletions of the long arm of chromosome 3. Fetus 1 had ventricular septal defect, cleft lip and palate, and a 1.66 Mb deletion on 3q29. The deleted region encompassed all of the critical genes for 3q29 microdeletion syndrome. Fetus 2 had overriding aorta, ventricular septal defect, and a novel 240 kb deletion on 3q28.
CONCLUSION
3q29 microdeletion may result in CHD in combination with cleft lip and palate. Genomic CNVs can be detected by low coverage whole genome sequencing.
目的
确定两名患有先天性心脏病（CHD）胎儿的基因组拷贝数变异（CNV）的性质，并探讨3q微缺失与CHD之间的相关性。
方法
从胎儿脐带组织中提取基因组DNA，通过低覆盖度全基因组测序检测染色体拷贝数变异。
结果
两名胎儿均存在3号染色体长臂的微缺失。胎儿1患有室间隔缺损、唇腭裂，在3q29处有1.66 Mb的缺失。缺失区域包含3q29微缺失综合征的所有关键基因。胎儿2患有主动脉骑跨、室间隔缺损，在3q28处有一个新的240 kb缺失。
结论
3q29微缺失可能与唇腭裂一起导致CHD。低覆盖度全基因组测序可检测基因组CNV。
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