用单核苷酸多态性微阵列芯片分析一例新发的胎儿衍生染色体异常  

Application of single nucleotide polymorphism-based array analysis for prenatal diagnosis of a fetus with de novo derivative chromosome

作　　者：吴坚柱[1] 何志明[1] 张志强[1] 陈宝江[1] 谢英俊[1] 林少宾[1] 

机构地区：[1]中山大学附属第一医院妇产科胎儿医学中心,广州510080

出　　处：《中华医学遗传学杂志》2016年第5期678-681,共4页Chinese Journal of Medical Genetics

摘　　要：目的对一例颈部透明层（nuchal translucency，NT）和颈部皮肤皱褶（nuchal fold，NF）增厚的胎儿进行细胞遗传学分析，为评估再发风险及产前诊断提供依据。方法应用G显带核型分析和单核苷酸多态性微阵列芯片（single nucleotide polymorphism-based arrays, SNP-Array）对胎儿及其父母进行分析。结果高密度SNP—Array芯片检测显示胎儿存在Xp22．33p11．4区41．04Mb的重复以及13q31．3q34区30．51Mb的重复。G显带分析显示胎儿核型为46，X，der（x）（13qter→13q31：：Xp11．4→Xp22．3：：Xp22．3→Xqter）。胎儿父母的芯片及G显带核型分析结果均正常。结论SNP—Array结合G显带有助于确定新发的衍生染色体的成分和连接方式，提高诊断的准确率，对复发风险的评估具有重要的价值。Objective To analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis. Methods G-banded karyotyping and single nucleotide polymorphism-based array （SNP-Array） analysis were used to analyze the fetus and her parents. Results SNP-Array analysis has detected a 41.04 Mb duplication at Xp22.33p11.4 and a 30.51 Mb duplication at 13q31.3q34 in the fetus. G-banding karyotyping indicated that the fetus had a karyotype of 46 ,X,der（X）（13qter→13q31： ： Xpll. 4→Xp22.3：： Xp22.3→Xqter）. Her parents had normal results for both G-banding karyotyping and SNP-Array analysis, suggesting that the fetus has carried a de novo derivative chromosome X. Conclusion SNP-Array combined with O-banding karyotyping is helpful to confirm the composition and connection type of de novo derivative chromosome, which can improve the accuracy of diagnosis and is valuable for the evaluation of recurrence risk.

关 键 词：新发突变 衍生染色体 核型分析 单核苷酸多态性微阵列芯片 

分 类 号：R714.55[医药卫生—妇产科学]