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目的探讨联合运用羊水核型分析、荧光原位杂交和微阵列比较基因组杂交(array comparative genomic hybridization,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。方法通过羊水培养,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)标本进行荧光原位杂交检测和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13q11.1-q11.2区带存在2.03 Mb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和荧光原位杂交技术,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。
Objective To investigate the clinical value of combined use of amniotic fluid karyotype analysis, fluorescence in situ hybridization and array comparative genomic hybridization (aCGH) in the detection of fetal extra small marker chromosome pathogenicity. Methods Fetal amniotic fluid cell karyotype analysis was performed by amniotic fluid culture and chromosome G banding technique. One case of fetus with small marker chromosome (chromosome 47, XY, + Mar) was detected by fluorescence in situ hybridization and aCGH analysis , The size of the small marker chromosome and the specific source region were determined by genome-wide high-resolution scanning. Results aCGH analysis showed that there was a 2.03 Mb duplication in the 13q11.1-q11.2 region of the fetus chromosome. Conclusion The aCGH technique can identify the origin and specific region of extra small marker chromosomes at the genome level. Combined with traditional karyotyping and fluorescence in situ hybridization, aCGH can help to determine the genetic effects and prenatal diagnosis of marker chromosomes.