论文部分内容阅读
对门诊遗传咨询者（ 咨询组）２６０ 例进行了外周血染色体检查，检出异常核型３０ 例，发生率为１１－５ ％ ，在核型正常者中分析３０５０ 个分裂相，发现仅有单个细胞染色体结构畸变２６ 例，畸变包括易位、倒位、缺失等，发生率为１０－０ ％ 。同时还选择了正常对照（对照组）４８ 人次，检查结果全部核型正常，分析３０５０ 个分裂相，未发现一例单个细胞染色体结构畸变。两组畸变率，经统计学处理，Ｐ＜ ０－０５ ，两者之间有显著差异，说明细胞遗传学中单个细胞染色体结构畸变对临床诊断有显著意义。认为单个细胞染色体结构畸变的发现即证明亲代可能是一种嵌合体，只是比率极小，它不象数目上的异常具有偶然性。文中讨论了其临床意义。
Peripheral blood chromosome examination was performed in 260 outpatient genetic counselors (counseling group), and 30 cases of abnormal karyotype were detected, the incidence rate was 11-5%. In the normal karyotype, 3050 cleaved phases were found and found only There are 26 cases of chromosome aberration in a single cell. The aberrations include translocation, inversion, deletion and so on. The incidence is 10-0%. At the same time, we also selected the normal control (control group) for 48 times. All the karyotypes were normal, and 3050 cleaved phases were analyzed. No chromosome aberration was found in a single cell. The aberration rates of the two groups were statistically analyzed (P <0-05). There was a significant difference between the two groups, indicating that the chromosome aberrations of a single cell in cytogenetics have a significant clinical diagnosis. The finding that a single cell has a chromosomal structural aberration that proves that the parental may be a chimera, but at a very low rate, is not as contingent as the number of anomalies. The article discusses its clinical significance.