自贡地区630例智力低下、发育异常患者的细胞遗传学分析

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，栓出率为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．O％，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。

Cytogenetic analysis for 630 cases of patients with mental retardation and dysplasia in Zigong area.

Objective： To discuss the relation of mental retardation, development anomalies and chromosomal abnormalities. Through the analysis of chromosome karyotype in the patients with mental retardation and dysplasia. Methods： Peripheral blood lymphocyte culture and preparation of chromosome G banding karyotype analysis were carried on in 630 cases of patients with mental retardation and dysplasia. Results： In 630 cases of patients with mental retardation and dysplasia, 219 cases were of chromosome abnormality, and the positive rate was 34. 8%. The changes included chromosomal number abnormalities, chimera, translocation, inversion ： chromosome polymorphism, accounting for 20. 5%, 5.9%, 4. 1%, 3.3% and 1% respectively. Among them 21 - trisomy syndrome karyotype was of the most common with a total of 138 cases, and accounted for 63%. They included standard, translocation and mosaic type, accounted for 74. 6%, 15.2% and 10. 1% in the trisomic karyotype, respectively. Conclusion： Chromosomal abnormali- ties, mental retardation and dysplasia are closely related, which should be taken seriously. It is important for diagnosis, treatment and guiding eugenics to test chromosome of high - risk person.