[一例携带7p22.3缺失、7p22.3p22.2重复及7q33q36.3重复病例的临床与遗传学分析]
[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication].
作者信息
Shen Nan, Guo Rui, Liu Yi, Gai Zhongtao
机构信息
School of Medicine and Life Sciences, University of Ji'nan - Shandong Academy of Medical Sciences, Ji'nan, Shandong 250022, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):708-711. doi: 10.3760/cma.j.issn.1003-9406.2019.07.013.
OBJECTIVE
To correlate genotype with clinical phenotype of a child featuring multiple congenital malformations.
METHODS
Clinical examination of the patient was carried out. Chromosome microarray analysis (CMA) was employed to detect genomic copy number variations (CNVs), and quantitative PCR (qPCR) was used for verifying the result.
RESULTS
The child had congenital heart disease (ventricular septal defect, atrial septal defect, pulmonary arterial hypertension, and tricuspid regurgitation), psychomotor retardation, agenesis of corpus callosum, hypospadias and scoliosis. CMA has detected a 1.8 Mb deletion at 7p22.3, a 1.8 Mb duplication at 7p22.3p22.2 and a 23.5 Mb duplication at 7q33q36.3 in the fetus, all of which were de novo in origin.
CONCLUSION
CMA can precisely detect microdeletion/duplications and facilitate the genotype-phenotype correlation analysis.
目的
将一名具有多种先天性畸形儿童的基因型与临床表型相关联。
方法
对该患者进行临床检查。采用染色体微阵列分析（CMA）检测基因组拷贝数变异（CNV），并使用定量聚合酶链反应（qPCR）验证结果。
结果
该儿童患有先天性心脏病（室间隔缺损、房间隔缺损、肺动脉高压和三尖瓣反流）、精神运动发育迟缓、胼胝体发育不全、尿道下裂和脊柱侧弯。CMA检测到胎儿7p22.3处有1.8 Mb的缺失、7p22.3p22.2处有1.8 Mb的重复以及7q33q36.3处有23.5 Mb的重复，所有这些均为新发突变。
结论
CMA能够精确检测微缺失/重复，并有助于基因型-表型相关性分析。
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