潮州地区1862例遗传咨询者细胞遗传学分析  

Cytogenetic analysis of 1862 genetic consultant in chaozhou region

作　　者：黄阳玉[1] 陈瑾[1] 陈争[2] 

机构地区：[1]潮州市妇幼保健院,广东潮州521000 [2]中山大学中山医学院遗传学教研室,广东广州510080

出　　处：《中国优生与遗传杂志》2014年第2期46-48,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省科技计划项目编号:2010B031600039

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。Objective： Summarizing the outcomes of karyotype analysis in patients who were suspected to be abnormal in chromo- some during the genetic counseling and assessing the effect of genetic counseling. Methods ： The G - band karyotype analyses were car- ried out in suspected patients and statistics were made to analysis the incidences of chromosome abnormal patients with different clinica~ manifestation. Results： out of 1862 karyotype analyses of peripheral blood lymphocyte, 121 individuals （6. 5% ） had chromosomal ab- normalities. Among them, 37 cases （30. 6% ） were with abnormal euchromosome number, 17 cases （ 14% ） were with abnormal eu. chromosome structure, 10 cases （8. 3% ） were with abnormal euchromosome number and structure, 15 cases （ 12.4% ） were with ab- normal sex chromosome number, 2 cases （1.7%） were with abnormal sex chromosome structure, 8 cases （6. 6% ） were chimera, 2 cases （2. 5% ） were sex reverse and 29 cases （24%） were heteromorphism. Conclusion： Karyotype analyses is always the most con. venient and economical method in diagnose of chromosome abnormalities. Abnormal chromosome structure is one of the pathogenesis o abortion. Carrying out karyotype analyses in the recurrent abortion couples not only can make sure their pathogenesis, but also can pre. vent the birth of imbalanced chromosome babies with father genetic counseling and prenatal diagnosis.

关 键 词：遗传咨询 染色体 核型异常 

分 类 号：R394[医药卫生—医学遗传学]