期刊文献+

复杂染色体重排 被引量:4

下载PDF
导出
摘要 复杂染色体重排(CCR)是指涉及两条以上染色体、至少有三个断裂点的染色体结构重排。CCR是非常罕见的事件,到2011年为止,国外仅有255例报告[1],国内也不多[2]。尽管极其罕见,由于CCR的携带者可有多种表现型,包括表型正常,男性不育和精神发育迟滞和/或先天性畸形,CCR的临床诊断也非常重要。随着FISH等分子遗传学技术的应用,
出处 《国际检验医学杂志》 CAS 2013年第18期2431-2433,共3页 International Journal of Laboratory Medicine
  • 相关文献

参考文献21

  • 1Pellestor F, Anahory T, Lefort G, et al. Complex chromosomal re arrangements:origin and meiotic behavior[J]. Hum Reprod Up date,2011,17(4) :476-494.
  • 2陈英剑,孙晓明,张玮玮,包慧.46,XX,t(2;4;13)复杂易位伴自然流产一例[J].中华医学遗传学杂志,2012,29(5):616-616. 被引量:3
  • 3De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements=a study of 59 patients [J]. J Med Genet,2007,44 (12) :750-762.
  • 4Park JK, Lee J I, Jo HC, et al. Molecular cytogenetic investigation of a balanced complex ehromosomal rearrangement carrier aseertained through a neonate with partial trisomies of 13 and 22 [J]. Am J Med Genet, 2007,143A(13) : 1502-1509.
  • 5Zhang F,Carvalho CM, Lupski JR. Complex human chromosomal and genomic rearrangements [J]. Trends Genet, 2009,25 (7): 298- 307.
  • 6Karmous-Benailly H,Giuliano F, Massol C,et al. Unbalanced in- herited complex chromosome rearrangement involving chromo- some 8,10,11, and 16 in a patient with congenital malformations and delayed development [J]. Eu J Med Genet,2006,49(5) :431- 438.
  • 7Gruchy N, t3arreau M, Kessler K, et al. A paternally transmitted complex chromosomal rearraagement (CCR) involving chromo- somes 2,6,and 18 includes eight breakpoints and five insertional translocations ITs through three generations [J]. Am J Med Gen- et,2009,152A(1) ,185-190.
  • 8Patsalis PC. Complex chromosomal rearrangements [J]. Genet Couns,2007,18(1):57-69.
  • 9Giardino D, Corti C,Ballarati L, et al. De novo balanced chromo- some rearrangements in prenatal diagnosis [J]. Prenat Diagn, 2009,29 (3) : 257-265.
  • 10Thomas NS, Durkie M, Van Zyl B, et al. Parental and chromosom- al origin of unbalanced de novo structural chromosome abnormali- ties in man [J]. Hum Genet,2006,119(4):444-450.

二级参考文献4

  • 1Pellestor F. Anahory T, Lefort G,et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum Reprod Update,2011, 17:476-94.
  • 2Gorski JL, Kistenmacher ML, Punneu HH, et al. Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet, 1988. 29:217-261.
  • 3Madan K. Nieuwint AWM, Van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet. 1997,99: 806-815.
  • 4Batista DAS, Pal GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet, 1994,53:255-263.

共引文献2

同被引文献15

引证文献4

二级引证文献13

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