【摘要】 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。更多还原

【Abstract】 Objective: Summarizing the outcomes of karyotype analysis in patients who were suspected to be abnormal in chromosome during the genetic counseling and assessing the effect of genetic counseling. Methods: The G- band karyotype analyses were carried out in suspected patients and statistics were made to analysis the incidences of chromosome abnormal patients with different clinical manifestation. Results: out of 1862 karyotype analyses of peripheral blood lymphocyte,121 individuals( 6. 5%) had chromosomal abnormalities. Among them,37 cases( 30. 6%) were with abnormal euchromosome number,17 cases( 14%) were with abnormal euchromosome structure,10 cases( 8. 3%) were with abnormal euchromosome number and structure,15 cases( 12. 4%) were with abnormal sex chromosome number,2 cases( 1. 7%) were with abnormal sex chromosome structure,8 cases( 6. 6%) were chimera,3 cases( 2. 5%) were sex reverse and 29 cases( 24%) were heteromorphism. Conclusion: Karyotype analyses is always the most convenient and economical method in diagnose of chromosome abnormalities. Abnormal chromosome structure is one of the pathogenesis of abortion. Carrying out karyotype analyses in the recurrent abortion couples not only can make sure their pathogenesis,but also can prevent the birth of imbalanced chromosome babies with father genetic counseling and prenatal diagnosis.更多还原