论文部分内容阅读
目的对产前羊水细胞培养染色体核型分析,检测出染色体易位的胎儿应查父母双方染色体,并用基于芯片的微阵列比较基因组杂交(array comparative genomic hybridization,a CGH)技术检测,以明确其易位染色体的来源及胎儿染色体有无微重复或微缺失,探讨微阵列比较基因组杂交(a CGH)技术在检测胎儿染色体异常中的临床价值。方法通过胎儿羊水细胞培养,染色体G显带核型分析,诊断出胎儿染色体异常,核型为46,X,t(X;13;9)(q13;q14;p22),t(3;6)(p13;q23)。对此例标本进行a CGH分析,通过多位点高分辨率扫描确定胎儿染色体有无微重复或微缺失。结果a CGH扫描检测出胎儿染色体在Xq13.1-q13.2(71,699,190-71,820,393)区带存在121kb的缺失,在13q14.2-q21.1(48,706,590-57,520,639)区带存在8.8Mb的缺失。结论利用a CGH技术可以方便快速地鉴定和分析染色体的微重复或微缺失,结合传统的核型分析技术,可以为判断重复或缺失染色体片段的遗传学效应和产前诊断提供帮助。
OBJECTIVE: To analyze the chromosome karyotype of prenatal amniotic fluid cell culture and to detect the chromosomal translocations of the fetus should check the chromosomes of both parents and detected by array based genomic hybridization (a CGH) The origin of chromosomal chromosomes and the presence or absence of micro-duplication or microdeletions in fetal chromosomes were investigated to explore the clinical value of microarray comparative genomic hybridization (aCGH) in the detection of fetal chromosomal abnormalities. Methods Fetal amniotic fluid cell culture and chromosome G banding karyotype analysis were used to diagnose fetal chromosomal abnormalities. The karyotype was 46, X, t (X; 13; 9) (q13; q14; p22) (p13; q23). A CGH analysis of this sample was performed to determine if the fetus chromosome had micro-duplications or microdeletions by multi-site high-resolution scanning. Results a CGH scan detected fetal chromosome Xq13.1-q13.2 (71,699,190-71,820,393) band 121kb deletion, 13q14.2-q21.1 (48,706,590-57,520,639) band 8.8Mb deletion. Conclusion A CGH technique can be used to identify and analyze chromosomes’ microdissections or microdeletions conveniently and quickly. Combined with traditional karyotyping techniques, a CGH technique can be used to help determine the genetic effects and prenatal diagnosis of duplicated or deleted chromosome segments.