期刊文献+

67例染色体罗伯逊易位携带者的细胞遗传学分析 被引量:3

97 cases of chromosome robertsonian translocation carriers cytogenetic analysis
原文传递
导出
摘要 目的通过对7816例因反复流产、不孕不育、生长发育迟缓等患者进行外周血染色体检查结果统计分析,进一步探讨染色体罗伯逊易位的临床意义及指导临床治疗。方法采用外周血淋巴细胞染色体培养技术,通过G显带,核型分析。结果外周血染色体检查共计检测出67例染色体罗伯逊易位,其中以Rob(13q14q)和Rob(14q21q)为主,分别占65.6%(44/67)和13.4%(9/67)。结论染色体罗伯逊易位是导致反复流产、不良孕产史、不孕不育和身材矮小等的重要遗传因素。同时染色体罗伯逊易位可遗传给后代,应做好产前诊断。 Objective:Through 7816 cases with repeated abortion,infertility,growth retardation in patients with peripheral blood chromosome results of statistical analysis,further explore the clinical significance of chromosome robertsonian translocation and guide clinical treatment. Methods:Peripheral blood chromosome examination with a total of 67 cases with chromosome robertsonian translocation,With rob(13q;14q)and rob(14q;21q),65.6%(44/67)and 13.4%(9/67). Conclusion:Chromosome robertsonian translocation is lead to recurrent abortion,abnormal gestation and birth on the basis of,infertility and important genetic factors such as short stature. Chromosome Robertsonian translocation can be passed to their children at the same time,should do well in prenatal diagnosis.
出处 《中国优生与遗传杂志》 2015年第3期39-40,124,共3页 Chinese Journal of Birth Health & Heredity
基金 十二五国家科技支撑计划项目两项(2012BAI09B04)
关键词 罗伯逊易位 外周血 核型分析 反复流产 Robertsonian translocation Peripheral Blood Karyotype analysis Recurrent abortion
  • 相关文献

参考文献12

二级参考文献93

  • 1邓捷,彭文林,刘颖,周灿权,李洁,方丛,林雯青,庄广伦,曾艳红,童大跃.应用荧光聚合酶链反应对α地中海贫血进行植入前遗传学诊断[J].中华医学杂志,2005,85(38):2682-2685. 被引量:14
  • 2黄钰君,区小冰,余一平,张力.广州地区儿童α地中海贫血的发生率及缺失基因检测结果分析[J].中国小儿血液,2005,10(5):205-208. 被引量:21
  • 3夏家辉,李麓云.染色体病[M].北京:科学出版社,1998. 被引量:7
  • 4Therman E, Susman B, Denniston C. The nonrandom participation of human acrocentrie chromosomes in Rohertsonian translocations [J]. Ann Hum Genet, 1989, 53 (Pt 1): 49. 被引量:1
  • 5Berend SA, Horwitz J, McCaskill C et al. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes [J]. Am J Ham Genet, 2000, 66 (6) : 1787. 被引量:1
  • 6The Practice C ittee of the American Society for Reproductive Medicine Birmingham, Alabama. Current evaluation of amenorrhea [J]. Fertil Steril, 2006, 86 (Suppl 4): 148. 被引量:1
  • 7Sanluville D, Aubry MC, Dumez Y et al. Maternal uniparental heterodisomy of chromosome 14 : chromosomal mechanism and clinical follow up [J].J Med Genet, 2000, 37 (7) : 525. 被引量:1
  • 8Guo JH, Zhu PY, Huang YE et al. Autoxomal aberrations associated with testicular dysgenesis or spermatogenic arrest in Chinese patients [J].Asian J Androl, 2002,4 (1): 3. 被引量:1
  • 9Page SL, Shin JC, Han JY et al. Breakpoint divensity illustrates distinct mechanisms for Robertsonian translocation formation [J]. Hum Mol Genet, 1996, 5 (9) : 1279. 被引量:1
  • 10Hook EB. Unbalanced robertsonian translocations associated with down's syndrome or patau's syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio [J].Hum Genet, 198t, 59: 235. 被引量:1

共引文献53

同被引文献19

引证文献3

二级引证文献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