[7q11.23重复综合征罕见病例的产前诊断]
[Prenatal diagnosis of a rare case of 7q11.23 duplication syndrome].
作者信息
Ma Guangjuan, Jiang Yulin, Yu Zhen, Dai Wencheng, Liu Ning, Li Huijun, Mijiti Gulinazi
机构信息
Center for Prenatal Diagnosis, Maternal and Child's Health Hospital of Xinjiang Ughur Autonomous Region, Urumuqi, Xinjiang 830000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):244-246. doi: 10.3760/cma.j.issn.1003-9406.2017.02.021.
OBJECTIVE
To explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication.
METHODS
Amniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis.
RESULTS
Chromosomal analysis suggested that the fetus and both parents all had a normal karyotype, while a duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 Mb duplication in chromosome 7q11.23, which was confirmed by FISH.
CONCLUSION
Combined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a case with 7q11.23 syndrome.
目的
探讨联合技术在1例7q11.23重复病例产前诊断中的应用。
方法
对血清学产前筛查提示高风险的孕妇在孕中期进行羊膜腔穿刺术。对培养的羊水细胞及父母外周血样本进行G显带染色体分析。提取羊水样本的DNA进行微珠芯片（BoBs）检测。为确定重复范围，采用单核苷酸多态性阵列（SNP阵列，Affymetrix CytoScan 750K）和荧光原位杂交（FISH）分析来测定拷贝数变异。
结果
染色体分析提示胎儿及父母核型均正常，而BoBs检测发现7q11.23存在重复。SNP阵列显示7号染色体q11.23区域有1.5 Mb的重复，FISH分析证实了这一结果。
结论
联合应用产前BoBs、SNP阵列和FISH能够有效诊断1例7q11.23综合征病例。
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