Prenatal diagnosis for a fetus with 5p deletion syndrome
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目的 对1例超声影像提示左足足内翻的胎儿进行遗传学分析，探讨其染色体拷贝数变异与临床表型的相关性。 方法 选取2020年10月14日于台州医院就诊的1例5p缺失综合征胎儿为研究对象。采集胎儿的羊水及其父母的外周血样，进行G显带核型分析，应用拷贝数变异测序(CNV-seq)检测胎儿染色体的微缺失与微重复，进一步用荧光原位杂交(FISH)技术进行家系验证。 结果 胎儿及其父母的G显带核型分析均未见明显异常，CNV-seq发现胎儿5号染色体存在23.12 Mb的拷贝数缺失，7号染色体存在21.46 Mb的拷贝数重复，FISH进一步验证胎儿母亲为隐匿性t(5；7)(p14.3；q33)携带者，胎儿的拷贝数变异遗传自母亲。 结论 CNV-seq联合FISH技术能有效诊断出隐匿性5p缺失综合征，避免患儿的出生，为产前遗传咨询提供理论依据。 Objective To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. Methods Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). Results The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5 7)(p14.3 q33) translocation. Conclusion CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Objective To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. Methods Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). Results The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5 7)(p14.3 q33) translocation. Conclusion CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
5p deletion syndromeCopy number variationFluorescencein situ hybridizationCryptic translocation
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