期刊文献+

1例男性46,XY,t(Y;1)不孕症患者的染色体核型分析

Karyotype 46, XY, t (Y; 1) (q12; p33) in a sterility patient
下载PDF
导出
摘要 目的了解核型为46,XY,t(Y;1)(q12;p33)伴无精子症男性患者的分子遗传学特点。方法采用常规方法制备外周血淋巴细胞染色体,经G显带进行染色体核型分析。结果患者1号染色体短臂与Y染色体长臂相互易位。结论患者无精子症是由于Y染色体与1号染色体易位所致,携带异常核型染色体,可能是影响生育的重要原因之一。 Objective To study the characteristics of molecular genetics of karyotype 46,XY,t(Y;1)(q12;p33) in a male azoospermia patient.Methods Chromosome specimens were prepared with routine method and karyotypes were analyzed using G-banding.Results A translocation of the short arm of chromosome 1 and the long arm of chromosome Y was observed in the patient.Conclusion Azoospermia is caused by the translocation of chromosomes Y and 1.It is one of the important reasons for sterility in those carrying abnormal karyotypes of chromosomes Y and 1.
出处 《军医进修学院学报》 CAS 2009年第6期901-902,共2页 Academic Journal of Pla Postgraduate Medical School
关键词 无精子症 核型分析 易位 遗传 azoospermia karyotyping translocation genetic
  • 相关文献

参考文献7

  • 1Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm [ J ] . Hum Genet, 1976, 34 (2) : 119- 124.
  • 2Vogt P, Chandley AC, Hargreave TB, et al. Mierodeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene [ J ] . Hum Genet, 1992, 89 ( 5 ) : 491-496.
  • 3Pinho MJ, Neves R, Costa P, et al. Unique t ( Y; 1 ) ( q12; q12 ) reciprocal transloeation with loss of the heteroehromatie region of chromosome 1 in a male with azoospermia due to meiotic arrest : a case report [ J ] . Hum Reprod, 2005, 20 ( 3 ) : 689-696.
  • 4Teyssier M, Rafat A, Pugeat M. Case of J(Y;1)familial translocation [ J ] . Am J Med Genet, 1993, 15, 46 ( 3 ) : 339- 340.
  • 5Pabst B, Glaubitz R, Schalk T, et al. Reciprocal translocation between Y chromosome long arm euchromatin and the short ann of chromosome 1 [ J ] . Ann Genet, 2002, 45 ( 1 ) : 5-8.
  • 6Maraschio P, Tupler R, Dainotti E, et al. Molecular analysis of a human Y;1 translocation in an azoospermic male [ J ] . Cytogenet CellGenet, 1994, 65 (4) : 256-260.
  • 7李永全,周汝滨,郑克勤,潘超仁,廖霞,陈小萍.Y染色体异常29例分析[J].遗传,1996,18(6):15-17. 被引量:6

二级参考文献10

  • 1陈平乐,张惠芳,丛惠芝,杨卫.60例无精子症患者的细胞遗传学研究[J].男性学杂志,1993,7(4):226-228. 被引量:10
  • 2李永全,现代妇产科理论与临床.2,1994年
  • 3包湘兰,遗传,1989年,11卷,6期,32页
  • 4夏家辉,染色体病,1989年
  • 5谢涛,遗传与疾病,1987年,4卷,2期,69页
  • 6周宏远,遗传,1986年,8卷,5期,30页
  • 7郑红,国外医学遗传学分册,1984年,6期,329页
  • 8董兆文,遗传,1984年,6卷,1期,31页
  • 9刘希贤,武汉医学院学报,1983年,12卷,1期,50页
  • 10石化金.Y染色体异常的临床表现及遗传学研究[J].中华医学遗传学杂志,1992,9(5):306-307. 被引量:141

共引文献5

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部