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目的通过对3335例遗传咨询患者染色体的分析,探讨不孕不育、智力低下、身材矮小或畸形、习惯性流产及死胎患者细胞遗传学分析的异常率和临床意义。方法采用外周血常规制备染色体,应用G、C、N等显带技术进行细胞遗传学分析。结果 3335例遗传咨询患者染色体异常检出率为5.7%,其中1601例不孕不育患者,检出异常核型106例,异常率为6.6%;934例智力低下者,检出异常核型48例,异常率为5.1%;266例身材矮小或畸形者,检出异常核型12例,异常率为4.5%;534例习惯性流产及死胎患者,检出异常核型25例,异常率为4.7%。结论开展染色体检查对于遗传咨询患者的检查和诊疗非常必要并具有决定性意义,可避免不必要的盲目诊治。
Objective To investigate the abnormal rate and clinical significance of cytogenetic analysis of infertility, mental retardation, short stature or deformity, habitual abortion and stillbirth by analyzing the chromosomes of 3335 patients with genetic counseling. Methods Chromosomes were routinely prepared from peripheral blood and cytogenetic analysis was performed using banding techniques such as G, C, N and so on. Results The detection rate of chromosomal abnormalities in 3335 patients with genetic counseling was 5.7%. Among 1601 cases of infertility patients, 106 cases were found with abnormal karyotype, the abnormality rate was 6.6%. In 934 cases with mental retardation, abnormal karyotype 48 Cases, abnormal rate was 5.1%; 266 cases of short stature or deformity, detected in 12 cases of abnormal karyotype, the abnormal rate was 4.5%; 534 cases of habitual abortion and stillbirth patients, abnormal karyotype detected in 25 cases, the abnormal rate was 4.7%. Conclusion It is necessary and crucial to conduct chromosome examination for the examination and diagnosis and treatment of patients with genetic counseling to avoid unnecessary blind diagnosis and treatment.