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产前诊断中嵌合体的发现与处理 被引量:6

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摘要 目前,羊水中发现嵌合体仍然是遗传咨询中的一大难题,国外的相关报道认为在早期绒毛或羊水发现嵌合体之后,不要急于中止妊娠,要加做脐血染色体检查,同时使用分子水平检测如荧光原位杂交,并结合多普勒超声进行观察,在胎儿出生后对多个组织进行检测观察,并在出生后加强随访。我们在工作中也进行了以下探索,报告如下。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2009年第2期236-236,共1页 Chinese Journal of Medical Genetics
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参考文献4

  • 1周焕庚.嵌合体的诊断及有关问题[J].国际遗传学杂志,1984,5:268-271.
  • 2Hsu LY, Perlis TE. United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn,1984,4 : 97- 130.
  • 3Been P, Hsu LY, Perlis TE, et al. Prenatal diagnosis of chromosome mosaicism. Prenat Diagn, 1984, 4 : 1- 9.
  • 4高淑英,司艳梅,薛虹,王树玉.关于产前诊断绒毛细胞和羊水细胞中嵌合现象[J].中国优生与遗传杂志,2007,15(11):11-11. 被引量:29

二级参考文献4

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共引文献28

同被引文献66

  • 1Hsu LY, Perlis TE. United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn, 1984, 4: 97-130.
  • 2Liao J, Malini S, Svetlana AY, et al. Prenatal detection of del (10) (qll. 2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype. Prenatal Diagnosis, 2012, 32: 1166-1169.
  • 3Lillian YF, Hsu MD, Sara K, et al. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosa- icism studies. Prenatal Diagnosis, 1992, 12:555 - 573.
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  • 5Cardi DB, Diane VO, Helen B, et al. Accuracy of abnormal kar- yotypes after the analysis of both short- and long- term culture of chorionic villi. Prenatal Diagnosis, 2000, 20 956 - 969.
  • 6Akgul M, Ozkinay F, Ercal D, et al. Cytogenetic abnor- malities in 179 eases with male infertility in Western Region of Turkey: report and review. Prenatal Diagnosis, 2005, 27: 370- 377.
  • 7Been P, Hsu LY, Perlis TE, et al. Prenatal diagnosis of chromosome mosaicism. Prenat Diagnosis, 1984, 4:1 - 9.
  • 8Steen SJ, Lind AM, Pertain M, et al. Cytogenetic analysis of 2928 CVS samples and 1075 amnioeenteses from randomized studies. Prenatal Diagnosis, 1993, 13: 723- 740.
  • 9Marshall NE,Fraley G,Feist C,et al. Chorionic villus sampling forabnormal screening compared to historical indications : prevalenceof abnormal kayotypes[J]. J Matem Fetal Neonatal Med,2012,25(8):1463-1466.
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