【摘 要】
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目的:联合应用多种技术产前检测1例胎儿13q33.3-q34微缺失。方法:采集中孕期胎儿羊水及其父母外周血样本，行常规染色体核型分析，并应用单核苷酸多态性微阵列芯片(single nucleo
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目的:联合应用多种技术产前检测1例胎儿13q33.3-q34微缺失。方法:采集中孕期胎儿羊水及其父母外周血样本，行常规染色体核型分析，并应用单核苷酸多态性微阵列芯片(single nucleotide polymorphism array，SNP-array)技术对胎儿及其父母进行全基因组拷贝数变异分析，最后采用荧光原位杂交技术(fluorescence in situ hybridization，FISH)进行确诊。结果:胎儿羊水细胞染色体核型为46，XN，16qh+，SNP结果为13q33.3-q34区段缺失2.1 Mb；胎儿父亲外周血染色体核型为46，XY，16qh+，SNP结果为13q13.3-q14.2区段存在10.5 Mb杂合性缺失片段；胎儿母亲外周血染色体及SNP结果均未见异常。FISH检测结果显示胎儿父母未发现有13q33.3位点片段的缺失、重复或易位等异常。出生后小儿无异常临床表型。结论:通过结合染色体G显带核型分析、SNP-array以及FISH，产前确诊1例13q33.3-q34微缺失胎儿。其微缺失基因型与临床表型相关性还需进一步研究。“,”Objective:To explore the application of combined techniques for the prenatal diagnosis of a case with 13q33.3-q34 microdeletion.Methods:The fetus and its parents were subjected to chromosome karyotyping and SNP array analysis, and the diagnosis was confirmed by fluorescence in situ hybridization.Results:The chromosome karyotypes of fetal amniotic fluid cells were 46, XN, 16qh+ .SNP-array analysis showed that the fetus had a 13q33-q34 microdeletion with a size of 2.1 Mb.The father of fetus had a 46, XY, 16qh+ karyotype, and SNP-array showed a 10.5 Mb loss of heterozygosity in 13q13.3-q14.2.The mother was normal for both tests.FISH showed that no abnormalities of the fetal parents at the 13q33.3 locus.Conclusion:The combined techniques of chromosome G-banding karyotype analysis, SNP-array and FISH have enabled effective prenatal diagnosis of a case with 13q33.3-q34 microdeletion.The correlation between genotypes and clinical phenotypes should be further studied.
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