期刊文献+

46,XY/46,XX女性嵌合体核型患者生育正常女婴一例 被引量:1

原文传递
导出
摘要 患者32岁,社会性别女。女性体征,表型、智力正常。乳房发育正常。月经初潮17岁。周期26天。否认家族遗传病史,否认传染病史。24岁结婚,男方表型正常,非近亲婚配。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2016年第5期736-737,共2页 Chinese Journal of Medical Genetics
  • 相关文献

参考文献2

二级参考文献16

  • 1柳林,逄力男,杨利丽.46,XX男性表型及遗传学研究进展[J].国外医学(内分泌学分册),2005,25(4):283-285. 被引量:33
  • 2项云改,谭丽.Y染色体微缺失与男性不育[J].国外医学(计划生育.生殖健康分册),2007,26(1):5-8. 被引量:19
  • 3Dada R,Gupta NP,Kucheria K. Molecular screening for Yq microde-letion in men with idiopathic oligozoospermia and azoospermia[J].J Bios-ci,2003.163-168.
  • 4Navarro-Costa P,Gon?alves J,Plancha CE. The AZFc region of the Y chromosome:at the crossroads between genetic diversity and male in-fertility[J].{H}HUMAN REPRODUCTION UPDATE,2010.525-542.
  • 5Tuttelmann F,Gromoll J,Kliesch S. Genetics of male infertility[J].Uro-loge A,2008.15612-15647.
  • 6Tieplolo L,Zuffardio O. Localization of factors controlling sperm ato-genesis in the non fluorescent portion of the human Y chromosome lon-garm[J].{H}Journal of Human Genetics,1976.119-124.
  • 7Stahl PJ,Mielnik A,Schlegel PN. Heat shock factor Y chromo-some(HSFY) mRNA level predicts the presence of retrievable testicu-lar sperm in men with nonobstructive azoospermia[J].{H}Fertility and Sterility,2011.303-308.
  • 8Simoni M,Bakker E,Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions.State of the art 2004[J].{H}International Journal of Andrology,2004.240-249.
  • 9Kleiman SE,Bar-Shira Maymon B,Yogev L. The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells[J].J Hum Reprod,2001.399-402.
  • 10Yang Y,Ma MY,Xiao CY. Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest[J].Int J An-drol,2008.573-578.

共引文献22

同被引文献3

引证文献1

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