Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2017
[Prenatal diagnosis of 22q11 microdeletion syndrome].
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Cai Meiying, Huang Hailong, Lin Na, Guo Nan, Wu Xiaoqing, Su Linjuan, Xu Liangpu
Аннотация
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.
METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.
RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.
CONCLUSION: The combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.
METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.
RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.
CONCLUSION: The combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.