期刊文献+

异常染色体核型

下载PDF
导出
摘要 近年来,染色体技术也得到了较快的发展,各种新的染色体疾病和异常染色体核型不断被发现,本文就这一领域的最新进展作一综述.
作者 余升红
出处 《中国优生与遗传杂志》 2006年第2期121-122,共2页 Chinese Journal of Birth Health & Heredity
  • 相关文献

参考文献10

  • 1Kim YM, Cho EH, Kim JM, Lee MH, Park SY, Ryu HM. Del (18p) syndrome with increased nuchal translucency in prenatal diagnosis[J]. Prenat Diagn, 2004 Mar, 24(3) :161 -4.
  • 2Giuffre M, La Placa S, Carta M, Cataliotti A, Marino M, Piccione M, Pusatefi F, Mcli F, Corsello G. Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome : further evidence for a putative gene on 4q[J]. Am J Med Genet A, 2004 Apt 15,126(2) : 186 -90.
  • 3Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of contactin 4 ( CNTN4 ) results in developmental delay and other features of 3p deletion syndrome[ J ]. Am J Hum Genet, 2004 Jun ,74(6) :1286 -93. Epub 2004 Apr 21.
  • 4Ozbek N, Derbent M, Olcay L, Yilmaz Z, Tokel K. Dysplastic changes in the peripheral blood of children with microdeletion 22q 11.2 [ J ]. Am J Hematol,2004 Oct, 77 ( 2 ) : 126 - 31.
  • 5Giagounidis AA, Germing U, Wainscoat JS, Bouhwood J, Aul C. The 5 q. syndrome [ J ]. Hematology, 2004 Aug,9 ( 4 ) :27 1 - 7.
  • 6Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A. Geschwindt R,Chudley AE, Saraiva J, Schinzel AA, Guichet A. Dobyns WE, Toutain A, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher. Schinzel ( 3C ) syndrome [ J ]. Am J Med Genet A,2005 Feb 9. [ Epub ahead of print ].
  • 7Williams NM, Owen MJ. Genetic abnormalities of chromosome 22 and the development of psychosis. Curt Psychiatry Rep [ J ] , 2004 Jun, 6 (3) :176 -82.
  • 8Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus G, Rauch A, Reis A. Severe,neonatal -onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t( X ;5 ) ( p21.1 ;q11 ) [ J ]. Am J Med Genet A,2005 Jan 15,132(2) :185 -8.
  • 9Itokawa M,Kasuga T, Yoshikawa T' Matsushita M. Identification of a male schizophrenic patient carrying a de novo balanced translocation, t (4 ; 13 ) ( p 16.1 ; q21.31 ) [ J ]. Psychiatry Clin Neurosci, 2004 Jan, 58(3) :333.7.
  • 10Nowaczyk M J, Bayani J, Freeman V, Watts J, Squire J, Xu J. De novo lq32q44 duplication and distal lq trisomy syndrome [ J ]. Am J Med Genet A,2003 Jul 15,120(2) :229, 33.

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