3901例外周血染色体分析及临床意义

Chromosome karyotype analysis of 3 901 cases and its clinical significance

目的 研究染色体异常检出的情况及其与疾病的关系.方法 对3 901例待检者抽取外周血,采用染色体培养、G显带、C显带,必要时行荧光原位杂交技术进行核心分析.结果 3 901例受检者中共检出染色体异常核型484例,异常检出率为12.41%,异常核型中男性293例,女性191例;异常核型中常染色体异常179例,占受检者的4.59%;性染色体异常168例,占4.31%,多态性137例,占3.51%.平衡易位核型中11例为世界首报.染色体异常检出类型与临床表现有显著性相关（r=0.013,P=0.000）.结论 对不良孕产史、智力低下、性分化异常的患者进行染色体核型分析具有重要的临床意义.

Objective To study the abnormal detection of chromosome and the relationship between abnormal karyotype of chromosome and diseases. Methods A total of 3 901 peripheral blood samples were enrolled. Karyotype was analyzed by chromosome cultivation, G- banding in all cases and C-banding or FISH in some cases if necessary. Results There were 484 cases of abnormal karyotypes with the rate of 12.41%, among which 293 cases were males and 191 cases were females. Among cases of abnormal karyotypes, 179 cases were abnormal karyotypes of euchromosome （4.59%）, 168 were abnormal karyptypes of sex chromosome （4.31%） and 137 with chromosome polymorphism （3.51% ）. Eleven cases of balanced chromosomal translocation were identified as the first reported karyotypes in the world by State Key Laboratory of Medical Genetics. A significant association between the kinds of abnormal karyotype and clinical manifestations was found （r =0.013, P =0. 000）. Conclusion It is important and necessary to make chromosomal analysis for patients with abnormal pregnancy history, mental retardation and disorder of sex development.