1056例细胞遗传学分析与临床意义的探讨

目的:探讨细胞遗传学分析与临床意义。方法:对先天畸形、生长发育迟缓、智力低下、小睾丸、始基子宫、原发或继发闭经、流产及死胎等1 056例患者,采用细胞遗传学技术,开展染色体检查,并对其进行分析。结果:发现164例染色体异常核型,占全部受检病例的15.53%。其中21-三体综合征(Down's)47例,占染色体异常核型的28.66%;性染色体异常61例,占染色体异常核型的37.20%;染色体结构异常45例,占染色体异常核型的27.44%;染色体多态性11例,占染色体异常核型的6.71%。结论,先天畸形、性器官发育不全、习惯性流产、不孕不育等,染色体异常是致病的重要原因。

Study on chromosome analysis about 1 056 cases and its clinical value

Objective:To explore the clinical value of chromosome analysis.Methods:1 056 patients with congenital malformation,growth retardation or mental retardation,micro-testis,infantile uterus,primary or secondary amenorrhea,spontaneous abortion or fetal death were detected in chromosome to analyze the results.Results:164 cases of chromosomal abnormal karyotype accounted for 15.53%.Of them,there were 47 cases of 21-trisomysyndrome(Down's) accounting for 28.66% in the chromosomal abnormal karyotype;there were 61 cases of sex chromosome abnormality accounting for 37.20% in the chromosomal abnormal karyotype;45 cases(6.71%) of the chromosomal structural abnormality,11 cases(6.71%) chromosome polymorphism.Conclusion:Thus,these results indicate that chromosomal abnormal karyotype in human is the main cause of congenital malformation,hypoplasty of sexual organs,recurrent abortion and infertility.