期刊文献+

温州地区1068例遗传咨询者细胞遗传学研究 被引量:3

Analysis of chromosomal karyotypes in 1068 cases of genetic counseling
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摘要 目的探讨智力低下、性发育异常、原发闭经及不良孕产史等患者染色体变化的特点和意义。方法采用外周血淋巴细胞培养方法制备染色体,G、C等显带技术进行细胞遗传学分析。结果1068例遗传咨询者染色体异常检出率达16.01%(171/1068)。不同病因的异常核型检出率分别为小睾、无精、少精者49.29%(69/140)、原发闭经者40.00%(30/75)、智力低下者26.67%(8/30)、不良孕产史者8.52%(54/634);171例异常核型中,性染色体数目结构异常71例(占41.52%),常染色体数目结构异常44例(占25.73%),染色体多态性47例(占27.49%),男(女)假两性畸形患者9例(占5.26%)。结论遗传咨询者中染色体异常比率高,染色体异常与原发闭经、无精、性分化异常有密切的关系。对高危人群进行染色体检查,为临床治疗及指导优生具重要意义。 Objective: To investigate the characteristic and significance of chromosome changes in patients with mental retardation, sexual development abnormity, primary amenorrhea and spontaneous abortion and stillbirth history. Methods: Routine culture for the peripheral blood lymphocytes were made and G, C band were analysed. Results: There are 171 abnormal karyotypes in 1068 cases ( 16. 01% ), include 69 in 140 sexual development abnormity patients ( 49. 29% ), 30 in 75 primary amenorrhea patients (40. 00% ), 8 in 30 mental retardation patients, 54 abnormal karyotypes in 634 spontaneous abortion and stillbirth history patients. Among 171 abnormal karyotypes, 71 cases of sex chromosome abnormalities, 44 cases of euchromosome abnormailities and 47cases of polymorphism were found. Conclusion: The detection rates is very high in genetic eounselees and there is a close relationship between abnormal karyotypes of chromosome and the diseases. Cytogeneties decetion is necessary for inquirers on heredity in fundamental hospital, it can be helpful for prenatal diagnosis and eugenic.
出处 《中国优生与遗传杂志》 2006年第8期36-37,50,共3页 Chinese Journal of Birth Health & Heredity
关键词 遗传咨询 染色体 异常核型 Genetic counsoling Human chromosome Abnormal karyotypee
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参考文献8

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