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目的总结遗传咨询过程中疑为染色体改变患者的染色体核型分析结果,评估遗传咨询的效果。方法对疑为染色体改变患者进行G显带染色体核型分析,统计分析不同临床表现患者染色体异常的发生率。结果本文分析1862例遗传咨询者外周血淋巴细胞染色体核型,发现异常核型121例,异常率6.5%。其中常染色体数目异常37例,占30.6%;常染色体结构异常17例,占14%;常染色体数目结构异常10例,占8.3%;性染色体数目异常15例,占12.4%;性染色体结构异常2例,占1.7%;嵌合体8例,占6.6%;性反转3例,占2.5%;异态性29例,占24%。结论核型分析仍是诊断染色体异常的最简便和最经济的方法。染色体结构异常是流产的重要病因,对多次流产夫妇进行常规G显带分析不仅能明确病因,而且结合进一步的遗传咨询和产前诊断,可防止不平衡染色体异常患者出生。
Objective To summarize the chromosomal karyotype analysis of patients suspected of being chromosomally altered during genetic counseling and evaluate the effect of genetic counseling. Methods G-banding karyotypes were analyzed in patients with suspected chromosomal changes, and the incidence of chromosomal abnormalities in different clinical manifestations was statistically analyzed. Results In this paper, 1862 cases of genetic counseling peripheral blood lymphocyte chromosome karyotype, abnormal karyotype was found in 121 cases, the abnormal rate of 6.5%. The number of autosomal abnormalities was 37 (30.6%), the autosomal abnormalities were 17 (14%), the number of autosomal abnormalities was 10 (8.3%), the number of sex chromosomes was abnormal (15), accounting for 12.4%. The sex chromosome abnormalities 2 cases, accounting for 1.7%; chimerism in 8 cases, accounting for 6.6%; 3 cases of sexual inversion, accounting for 2.5%; morbidities in 29 cases, accounting for 24%. Conclusion Karyotyping is still the easiest and most economical method to diagnose chromosomal abnormalities. Chromosomal structural abnormalities is an important cause of miscarriage. Conventional G-banding analysis of multiple abortion couples not only can make clear the cause, but also combined with further genetic counseling and prenatal diagnosis to prevent the birth of patients with unbalanced chromosomal abnormalities.