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Y染色体畸变四例

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摘要 例1男,30岁,婚后不育5年就诊。查体:智力正常,第二性征为典型男性,双侧睾丸大小、质地正常,双侧附睾、输精管正常。精液常规检查:参照《WHO人类精液检查与处理实验室手册》(第5版)标准,精液计算机辅助分析系统分析,精子计数结果为4.8×10^6/mL(正常参考范围≥15×10^6/mL)。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2014年第6期815-816,共2页 Chinese Journal of Medical Genetics
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参考文献7

  • 1罗玉琴,钱羽力,卢欢明,徐晨明,金帆.Inv(Y)患者精子染色体荧光原位杂交分析[J].中华医学遗传学杂志,2009,26(1):54-56. 被引量:20
  • 2Stankiewicz P, Holias-Rodzewicz Z, Jakubow-Durska K, et al. Cytogenetic and molecular characterization of two isodicentric Y chromosomes[J]. Am J Med Genet, 2001,101 : 20-25.
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二级参考文献7

  • 1周波,唐艳平,刘永章.一例特殊inv(Y)形成机理的研究[J].遗传,2006,28(2):148-152. 被引量:4
  • 2Rivera H, Gutierrez-Angulo M, Gomez-Sdnchez H,et al. True vs. false inv (Y) ( p11q11. 2) : a familial instance concurrent with trisomy 21. Ann Genet, 2002,45 : 63- 65.
  • 3Ulku O, Huseyin Y. A case with 46,X, +mar (Y), inv (Y) (p11. 2;q11.23)? Karyotype. Flrat Tlp Dergisi, 2008, 13: 77- 79.
  • 4Radhakrishna U, Shah VC, Chinoy NJ. Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 4.5, X/46, X inv (Y) mosaic male. Jinrui Idengaleu Zasshi, 1991, 3 251-255
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  • 7Zheng Li,Christopher J Haines,Yibing Han."Micro-deletions" of the human Y chromosome and their relationship with male infertility[J].Journal of Genetics and Genomics,2008,35(4):193-199. 被引量:24

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