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易位型18-三体1例 被引量:2

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摘要 1 病例报告 患者,27岁,因孕37“周,超声检查发现胎儿生长受限于2012年7月17日16时入院。患者平时月经规律,周期3—5/32天,末次月经:2011年10月25日,G2P0,2年前早孕人工流产1次。本次妊娠孕10周起常规产前检查。
出处 《实用妇产科杂志》 CAS CSCD 北大核心 2014年第7期556-556,共1页 Journal of Practical Obstetrics and Gynecology
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参考文献3

  • 1许争峰,胡娅莉,张建伟,朱瑞芳,茹彤,刘启兰,顾燕,张颖,仲晓玲.9例18三体综合征胎儿的产前诊断[J].中华围产医学杂志,2006,9(5):291-293. 被引量:14
  • 2Ariana KJ ,Roxana KJ ,Azadeh M,el al. Pericentric inversion of chronome 18 in parents leading to a phenotypically norn child with segnntal uni- parental disomy 18[J]. Eur J of Hum Genet,2011,19(5) :555 -560.
  • 3Rowe LR, Lee JY, Rector L, et al. U-type exchange is the most fre- quent mechanism for inverted duplication with terminal deletion rear- rangements[J]. J Med Genet,2009,46(10) :694 -702.

二级参考文献10

  • 1Palomaki GE,Neveux LM,Knight GJ,et al.Maternal serumintegrated screening for trisomy 18 using both first-and secondtrimester markers.Prenat Diagn,2003,23:243-247.
  • 2Meier C,Huang T,Wyatt PR,et al.Accuracy of trisomy 18 screening using the second-trimester triple test.Prenat Diagn,2003,23:443-446.
  • 3Staples AJ,Robertson EF,Ranieri E,et al.A maternal serum screen for trisomy 18:an extension of maternal serum screening for Down syndrome.Am J Hum Genet,1991,49:1025-1033.
  • 4Brumfield CG,Wenstrom KD,Owen J,et al.Ultrasound findings and multiple marker screening in trisomy 18.Obstet Gynecol,2000,95:51-54.
  • 5Sahinoglu Z,Uludogan M,Sayar C,et al.Second trimester choroid plexus cysts and trisomy 18.Int J Gynaecol Obstet,2004,85:24-29.
  • 6Bronsteen R,Lee W,Vettraino IM,et al.Second-trimester sonography and trisomy 18:the significance of isolated choroid plexus cysts after an examination that includes the fetal hands.J Ultrasound Med,2004,23:241-245.
  • 7Feuchtbaum LB,Currier RJ,Lorey FW,et al.Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18:the California experience.Prenat Diagn,2000,20:293-299.
  • 8Yang JH,Chung JH,Shin JS,et al.Prenatal diagnosis of trisomy 18:report of 30 cases.Prenat Diagn,2005,25:119-122.
  • 9Tongsong T,Sirichotiyakul S,Wanapirak C,et al.Sonographic features of trisomy 18 at midpregnancy.J Obstet Gynaecol Res,2002,28:245-250.
  • 10许争峰,胡娅莉,朱瑞芳.改良羊水原位培养法进行产前诊断的研究[J].现代妇产科进展,2003,12(4):273-275. 被引量:12

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