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荧光原位杂交法检测特纳氏综合征患者的微小标记染色体 被引量:2

Detection of small marker chromosome in patients with Turner's syndrome by flourescence in situ hybridization
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摘要 目的确定特纳氏综合征(Turner's syndrom)患者微小标记染色体(Small marker chromosome,smr)的来源。方法用 X和Y染色体着丝粒特异的DNA探针进行荧光原位杂交(Fluorescence in situ bybridization,FISH),检测3例核型为 45, X/46, X+smr的特纳氏综合征患者的smr。结果 2例患者smr染色体来源于Y染色体, 1例来源于X染色体。结论 FISH技术可快速准确鉴别微小标记染色体,对临床诊断和治疗方案的选择有重要指导作用。 Objective To identify the origin of small marker chromosome (smr) in the patients with Turner's syndrome. Method The small marker chromosome in 3 patients with Turner's syndrome, Whose karyotype was 45, X / 46, X+smr, was hybridized by centromere DNA probe of X and Y chromosome through fluorescence in situ hybridization (FISH). Results the small marker chromosome in 2 patients were derived from Y chromosome and in the other patient, it was from X chromosome. Conclusion FISH can be applied to detect small marker chromosome, which is important to clinical diagnosis and the choice of therapy.
出处 《第一军医大学学报》 CSCD 北大核心 2001年第4期292-293,F002,共3页 Journal of First Military Medical University
关键词 特纳氏综合征 标记染色体 荧光原位杂交 Turner's syndrome marker chromosome flurescence in situ hybridization
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参考文献2

  • 1Lo K W,J Obstet Ggnaecol,1996年,22卷,1期,35页
  • 2夏家辉,染色体病,1989年,15页

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