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父源嵌合型t(13;13)导致胚胎染色体不平衡和流产 被引量:2

Paternal mosaicism t (13:13) resulted in an embryonic chromosomal imbalance and abortion.
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摘要 目的 报告1例嵌合型的t(13;13)致妻5次流产的男性携带者,并对胚胎流产的原因进行讨论。方法 对流产胚胎组织进行15个DNA短串联重复序列分析。结果 t(13;13)携带者的流产胚胎检测D13S317位点和D13S2 5 8位点都仅有1个源自母亲微卫星标志物。未提示有其它染色体不平衡。结论 嵌合型的t(13;13)携带者这次胚胎流产原因是由于13号染色体不平衡所致。 Objective: We reported in the paper a male carrier of mosaic karytype 45,XY, t(13;13)/46,XY resulted in his wife of five spontaneous abortions and discussed the cause of this pregnancy loss. Methods: 15 short- tandem-repeat (STR) microsatellite marker loci were analyzed to evaluate the parents' genetic contribution to the aborted embryo. Results: Only an allele from the mother was found from the aborted embryonic tissues in locus D13S317 and D13S258. Conclusion: imbalenced chromosome 13 of the embryo is the cause of his abortion.
出处 《中国优生与遗传杂志》 2005年第4期52-53,共2页 Chinese Journal of Birth Health & Heredity
关键词 短串联重复序列 流产胚胎 染色体不平衡 男性携带者 Short tandem repeats(STR) Aborted fetus Chromosomal imbalance
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同被引文献7

  • 1Infantolino C, Fabris P, Infantolino D, et al. Usefulness of human pap- illomavirus testing in the screening of cervical cancer precursor le- sions: a retrospective study in 314 cases [ J ]. European Journal of Ob- stetrics & Gynecolgy and Reproductive Biology,2000,93 (1) :7 -75.
  • 2游慧灵.XXXY伴性别畸形1例.中国优生与遗传杂志,1999,7(5):48-48,59.
  • 3Yesilovas Z, Ozata M, Oktenli C, et al. Effect of supraphysiopogic do- ses of testosterone fasting plasma total homocysteine concentrations inmen with Klinefelter's syndrome[J].Fertil Steril, 2004,81 ( 15 ) : 1278 - 1282.
  • 4Thomas NS, Collins AR, Hassold TJ, et al. A reinvestigation of non - disjunction resulting in 47, XXY males of paternal origin [ J ]. Eur J Hun Jenet,2000,8(10) :805 -808.
  • 5Kamischke A, Baumgardt A, Horst J, et al. Clinical and diagnostic fer- tures of patiens with suspected Klinefeher syndrome [ J ]. J Androl ; 2003,24( 1 ) :41 -48.
  • 6居艳,刘琦.DNA甲基化与卵巢肿瘤的研究进展[J].医学研究生学报,2009,22(8):883-887. 被引量:7
  • 7姜雨婷,王文静,于洋,岳嘉明,刘睿智,李付彪.多种方法检测胎儿易位嵌合型21-三体综合征一例[J].中华医学遗传学杂志,2015,32(4):574-574. 被引量:1

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