自贡地区630例智力低下、发育异常患者的细胞遗传学分析 |
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引用本文: | 钟辉秀,谷孝华. 自贡地区630例智力低下、发育异常患者的细胞遗传学分析[J]. 中国优生与遗传杂志, 2013, 0(12): 71-72,85 |
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作者姓名: | 钟辉秀 谷孝华 |
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作者单位: | 四川省自贡市第一人民医院检验科,643000 |
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摘 要: | 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。
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关 键 词: | 智力低下 发育异常 染色体核型 染色体异常 |
Cytogenetic analysis for 630 cases of patients with mental retardation and dysplasia in Zigong area. |
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Affiliation: | ZHONG Hui -xiu, GU Xiao -hua. (Department of Clinical Laboratory, Zigong First People' s Hospital in Sichuan, 643000) |
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Abstract: | 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. |
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Keywords: | Mental retardation Dysplasia Chromosome karyotype Chromosome abnormality |
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