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目的:对先天畸形、生长发育迟缓、智力低下、小睾丸、基始子宫、原发或继发闭经、不孕不育、反复流产及死胎等就诊患者进行分析,了解不孕不育患者的增长趋势。方法:通过对1991~2011年来医院就诊并行染色体检查的患者,采用细胞遗传学技术开展染色体检查并进行统计分析。结果:3 889例染色体检查患者中832例染色体异常核型,占全部受检病例的21.4%。其中21三体综合征(Down’s)288例、性染色体异常367例、染色体结构异常378例、染色体数目异常435例、染色体易位核型74例和染色体多态性74例,分别占染色体异常核型的34.6%、44.1%、45.4%、52.3%、8.9%和8.9%。结论:染色体异常是先天畸形、性器官发育不全、习惯性流产、不孕不育等致病的重要原因。
OBJECTIVE: To analyze the patients with congenital malformations, growth retardation, mental retardation, small testes, primordial uterus, primary or secondary amenorrhea, infertility, recurrent spontaneous abortion and stillbirth, to understand the growth of infertility patients trend. METHODS: Chromosome tests were performed using cytogenetics and analyzed statistically for patients who had undergone concurrent chromosomal examination at hospitals during 1991-2011. RESULTS: There were 832 chromosomal abnormal karyotypes among 3 889 chromosomal examinations, accounting for 21.4% of all examined cases. Among them, there were 288 cases of Down’s, 21 cases of abnormal chromosomal abnormalities, 378 cases of chromosomal abnormalities, 435 cases of chromosomal abnormalities, 74 cases of chromosomal translocations and 74 cases of chromosomal abnormalities, Type 34.6%, 44.1%, 45.4%, 52.3%, 8.9% and 8.9%. Conclusion: Chromosomal abnormalities are the main causes of congenital malformations, sexual organ dysplasia, habitual abortion and infertility.