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目的通过对智力低下、发育异常患者进行细胞染色体核型分析,探讨智力低下、发育异常与染色体异常的关系。方法对630例智力低下、发育异常患者外周血进行淋巴细胞培养,制备染色体进行G显带,分析其染色体核型。结果 630例智力低下、发育异常患者中染色体异常者219例,检出率为34.8%,包括染色体数目异常、嵌合体、易位、倒位、及染色体多态性等多种改变,分别占20.5%、5.9%、4.1%、3.3%及1.0%,其中21-三体综合征核型最多见,共138例,占异常核型的63.0%,包括标准型、易位型及嵌合体型,分别占21-三体核型中的74.6%、15.2%及10.1%。结论染色体异常与智力低下、发育异常密切相关,应引起高度重视,对高危人群进行染色体检查,对临床诊断、治疗及指导优生优育具有重要意义。
Objective To investigate the relationship between mental retardation, dysplasia and chromosomal abnormalities by analyzing the chromosomal karyotypes in patients with mental retardation and dysplasia. Methods 630 cases of mental retardation, dysplasia patients with peripheral blood lymphocyte culture, the preparation of chromosome G banding, analysis of its karyotype. Results 630 cases of mental retardation in patients with dysplasia, 219 cases of chromosomal abnormalities, the detection rate was 34.8%, including the number of chromosome abnormalities, chimera, translocation, chromosome inversion polymorphism and other changes, accounting for 20.5 %, 5.9%, 4.1%, 3.3% and 1.0%, respectively. The karyotype of 21-trisomy syndrome was the most common, with a total of 138 cases accounting for 63.0% of the abnormal karyotypes, including the standard type, the translocation type and the chimeric type, Accounting for 74.6%, 15.2% and 10.1% of 21-trisomic karyotype, respectively. Conclusion Chromosomal abnormalities are closely related to mental retardation and abnormal development, which should be paid great attention to. Chromosome examination in high-risk groups is of great significance for clinical diagnosis, treatment and guidance of prenatal and postnatal care.