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妇产科临床142例平衡结构畸变重排断裂点分在研究 被引量:1

Analyses of distribution of rearranged breakpoints of 142 balanced chromosomal abnormalities in obstetric and gynecologic clinic
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摘要 142例平衡结构畸变的分析结果显示,妇产科临床重排断裂除较多累及近端着丝粒染色体14、15、22号外,7、8号染色体受累频率也显著性偏高。而2、4、5、6号染色体不仅断裂点的分布频率显著性偏低,而且有关平衡结构畸变个体的表型异常显著性增高。分析同时表明,重排断裂在3种不同G显带上的分布是非随机的,但在脆性位点是随机的。重排断裂点的这种分布规律既可能与染色体的内在分子结构有关,也可能与选择机制相联系。 The distribution of rearranged breakpoints of 142 balanced chromoslomal abnormalities in obstetric and gynecologic clinic was analyed. The results showed that in the acrocentric chromosome 14, 15, 22 and chromosome 7 and 8, there are significantly more breakages than the expects (P < 0. 01 ), while in chromosome 2, 4, 5 and 6, there are significantly fewer brmkages (P< 0.05 ). The ratio of abnormal phenotype in the tients with the chromosomal rearragnments which has fewer breadage is sighficantly higher than that in the rest patients (P <0.05). It was ho found that the distribution of the breakpoints in three different G-bandings is not random but in fragile sites. Such distributions of rearranged breakpoints may associatewith the molecular structure of the chromosome or the mecha nism of the mecha
作者 金帆 陈玉兰
出处 《中国优生与遗传杂志》 1999年第1期36-37,共2页 Chinese Journal of Birth Health & Heredity
关键词 妇产科 断裂点 染色体畸变 平衡结构畸变 Chromosome, Balanced structural abnormality,Breakpoint, Phenotype, Fragile site
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同被引文献13

  • 1何春娜,张海端,王爱勤,魏蓉裳.9号染色体臂间倒位对生育影响的研究[J].中国优生与遗传杂志,1996,4(5):33-33. 被引量:34
  • 2化爱玲,张月莲,郑梅玲,张桂林.孕中期羊水细胞染色体核型分析在产前诊断中的应用[J].中国优生与遗传杂志,2007,15(1):34-35. 被引量:8
  • 3郭晓玲,钟进,张国华,陈志华,卢海英,梁少联.胎儿染色体异常的产前筛查与诊断[J].中国优生与遗传杂志,2007,15(1):39-40. 被引量:10
  • 4陈湘漪,肖梅.86例出生缺陷临床分析[J].中国妇幼保健,2007,22(2):196-197. 被引量:11
  • 5Borgaonkar DS.95个染色体综合征[J].国外医学:遗传学分册,1986,(1):17-17.
  • 6任国庆 蔡惟年.4q部分三体综合征一例.中华医学遗传学杂志,1996,13(1):7-7.
  • 7王英 蒲力力 吴秀芬 等 XX.dirdup(4)(q21q25)一例.中华医学遗传学杂志,1995,12(2):46-46,112.
  • 8薛波 王耀珍 任善香 等.4q31-qter单体综合征一例.中华围产医学杂志,1999,2(4):236-236.
  • 9Sarda P, Lefort G, Fryns JP, et al. Interstitial deletion of the distal long arm of chromosome 4 [ J ]. J Med Genet, 1992,29:259 - 261.
  • 10Warburton D, De nevo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis : Clinical significance and distribution of breakpoints[ J]. Am J Hum Genet, 1991,49(2) :995.

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