【摘要】 目的探讨联合运用核型分析和微阵列比较基因组杂交(aCGH)技术在检测胎儿额外小标记染色体致病性中的临床价值。方法通过染色体G显带技术进行胎儿羊水细胞核型分析,对诊断出的1例胎儿携带小标记染色体(染色体核型为47,XY,+Mar)标本进行aCGH分析,通过全基因组高分辨率扫描确定小标记染色体的大小及具体来源区域。结果 aCGH分析结果显示该胎儿染色体在15q11.1-q11.2区带存在2.03Mb的重复。结论 aCGH技术能够在基因组水平上确定额外小标记染色体的来源和具体区域范围,结合传统的核型分析技术,可以为判断标记染色体的遗传学效应和产前诊断提供帮助。更多还原

【Abstract】 Objective To explore the clinical application of array comparative genomic hybridization(aCGH)and karyotype analysis in the prenatal evaluation of fetal with small supernumerary marker chromosome(sSMC).Methods One case was indentified with de novo small supernumerary marker chromosome.G-banding analysis indicated that the fetus had a karyotype of 47, XY,+Mar.aCGH was used to define the precise location and size of de novo chromosome.Results aCGH revealed that there was 2.03Mb duplication from 15q11.1-q11.2 in the fetus.aCGH revealed the presence of small supernumerary marker chromosome. Conclusion The technologies of aCGH can be used for identifying the origin of small supernumerary marker chromosome and defining the loci of the chromosome.Combined with the karyotype analysis,it can be applied to genetics analysis and prenatal diagnosis.更多还原