论文部分内容阅读
以着丝粒探针和完整的染色体探针行荧光原位杂交(FISH),可识别外部结构异常染色体(ESACs)的起源,但该方法只能同时检测1个或几个染色体,光谱核型分析(SKY)新技术可以同时行24条染色体着色探针杂交,而且用24条彩色探针能快速识别所有的染色体。本文报道1例首次应用SKY以培养的羊水细胞产前诊断ESAC。孕妇36岁,孕2产1,因年龄大而行产前细胞遗传学分析。孕中期行超声波和羊膜腔穿刺,原位培养细胞。羊水甲胎蛋白在正常范围内。GTG带染色体分析显示,来自3个不同原位培养的21个群体内,有7个小的,不知起源的ESAC。ESAC Q带阴性,而且不含核仁组织区。带有溴化乙锭扩展的GTG带能在600带水平上进行分析,结果显示在一些细胞里ESAC是线性的,在其他细胞内是环状的。在细胞分裂
In situ hybridization (FISH) with centromere probes and complete chromosomal probes identifies the origin of foreign structural aberrant chromosomes (ESACs), but this method can only detect one or more chromosomes at the same time. Spectral karyotypes Analysis (SKY) The new technology allows for the simultaneous hybridization of 24 chromosomally-labeled probes and the rapid identification of all chromosomes with 24 color-coded probes. This article reports a case of the first application of SKY cultured amniotic cells prenatal diagnosis of ESAC. Pregnant women 36 years old, 2 pregnancies 1, due to age and prenatal cytogenetic analysis. Pregnancy, ultrasound and amniocentesis, in situ cell culture. Amniotic fluid A fetoprotein in the normal range. GTG Chromosome Analysis showed that there are 7 small, unknown ESACs in 21 populations from 3 different in situ cultures. ESAC Q negative, and does not contain nucleolar tissue area. The GTG band with ethidium bromide extension can be analyzed on a 600 band scale and the results show that ESAC is linear in some cells and looped in other cells. In cell division