[15q11.2-q13.1缺失综合征胎儿的产前诊断]
[Prenatal diagnosis of a fetus with Phelan-McDermid syndrome].
作者信息
Luo Yuqin, Qian Yeqing, Wang Liya, Yang Yanmei, Sun Yixi, Jin Fan, Dong Minyue
机构信息
Department of Reproductive Genetics, Women' s Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):841-843. doi: 10.3760/cma.j.issn.1003-9406.2019.08.022.
OBJECTIVE
To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques.
METHODS
Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus.
RESULTS
SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin.
CONCLUSION
Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
目的
运用多种技术诊断患有费兰 - 麦克德米德综合征（PMS）的胎儿。
方法
联合应用单核苷酸多态性阵列（SNP Array）、多重连接依赖探针扩增技术（MLPA）、荧光原位杂交技术（FISH）对胎儿进行产前诊断。
结果
SNP Array检测到胎儿22q13.31q13.33区域存在4.03 Mb的微缺失，FISH和MLPA证实了这一结果。对父母的FISH分析表明，22q13.31q13.33缺失为新发突变。
结论
多种技术联合使用可实现准确的产前诊断和遗传咨询。
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