46,XY,r(21)伴无精症的细胞遗传学分析  

An cytogenetic analysis of 46,XY,r(21) complicated with azoospermia

作　　者：冯治[1] 韦振邦[1] 李新乐[1] 黄元河[1] 

机构地区：[1]右江民族医学院遗传学研究室,广西百色533000

出　　处：《右江民族医学院学报》2009年第6期957-958,共2页Journal of Youjiang Medical University for Nationalities

摘　　要：目的通过对1例21号环状染色体综合征患者的细胞遗传学分析,探讨21号环状染色体的形成原因,临床表型与染色体区带的关系。方法应用染色体常规标本、G显带、C显带技术对21号环状染色体进行识别与区带定位。结果患者核型为46,XY,r(21)[90]/45,XY,-21[6]/46,XY,r(21;21)[4]。结论21号环状染色体综合征的临床表现与21q末端缺失的多少相关,男性无精症可能与21q22.3片段的缺失相关。Objective To investigate the correlation among genesis, clinical phenotype and chromosome banding by analyzing one case of ring chromosome 21 syndrome. Methods The normal chromosome specimen, G banding and C banding technique was used to identify chromosome and to locate banding. Results The karyotype of the patient was 46, XY, r（21）[90]/45, XY, -21[16]/46, XY, r（21;21）[4]. Conclusion The clinicalmanifestation of ring chromosome 21 syndrome is associated with the number of 21q end deletion, male azoospermia may be associated with 21q22.3 segment deletion.

关 键 词：环状染色体 少精液症 染色体 人 细胞遗传学 

分 类 号：R329.23[医药卫生—人体解剖和组织胚胎学]