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1例t(21,21)罗伯逊易位患者外周血和精子染色体荧光原位杂交分析

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作者 吴畏 徐珉 刘嘉茵
机构地区 南京医科大学第一附属医院生殖中心
出处 《中华男科学杂志》 CAS CSCD 2004年第6期470-471,共2页 National Journal of Andrology
基金 江苏省卫生厅重点项目 (H2 0 11)
关键词 罗伯逊易位 同源染色体 精子 荧光原位杂交
分类号 R394 [医药卫生—医学遗传学]
  • 相关文献

参考文献8

  • 1Gardner RJM,GR Sutherland.Chromosome abnormalities and genetic counseling[M].London:Oxford University Press,1989.54-64.
  • 2刘永章,竺海波.用双色荧光原位杂交技术检测罗伯逊易位携带者的精子染色体[J].中华男科学杂志,2004,10(2):90-93. 被引量：5
  • 3Hardy K,Wright C,Rice S,et al.Future developments in assisted reproduction in humans[ J ].Reproduction,2002,123(2):171-183.
  • 4Berend SA,Horwitz J,McCaskill C,et al.Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes [ J ].Am J Hum Genet,2000,66(6):1787-1793.
  • 5维吉亚主编.人类遗传学[M].第3版.北京:人民卫生出版社,1999.61.
  • 6谭跃球,卢光琇,李麓芸.染色体易位携带者的胚胎植入前遗传学诊断研究进展[J].中华医学遗传学杂志,2002,19(1):76-78. 被引量：3
  • 7Robinson WP,Bernasconi F,Basaran S,et al.A somatic origin of homologous Robertsonian translocations and isochromosomes [J].Am J Hum Genet,1994,54(2):290-302.
  • 8Cheung SW,Shaffer LG,Richards CS,et al.Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15[J].Am J Med Genet,1997,72(1):47-50.

二级参考文献37

  • 1Miharu N, Best RG, Young SR. Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization[ J]. Hum Genet, 1994, 93 (5) :502-506.
  • 2Mercier S, Morel F, Fellman F, et al . Molecular analysis of the chromosomal equipment in spermatozoa of a 46, XY, t ( 7 ; 8 )(q11.21 ;cen)carrier by using fluorescence in situ hybridization[J]. Hum Genet, 1998, 102(4) :446-451.
  • 3Martin RH, Ernst S, Rademaker A, et al. Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy[J]. Hum Genet, 1997, 99(2) :214-218.
  • 4West JD, West KM, Aitken RJ . Detection of Y-bearing spermatozoa by DNA-DNA in situ hybridization [ J]. Mol Reprod Dev,1989, 1 (3) :201-207.
  • 5Hopman AH, Ramaekers FC, Raap AK, et al. In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors[J]. Histochemistry, 1988, 89(4) :307-316.
  • 6Rudak E, Jacobs PA, Yanagimachi R. Direct analysis of the chromosome constitution of human spermatozoa [J]. Nature,1978, 274 (5674) : 911-913.
  • 7Moosani N, Pattinson HA, Carter MD, et al. Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization [ J ]. Fertil Steril,1995, 64(4) :811-817.
  • 8Rubio C, Simon C, Blanco J, et al . Implications of sperm chromosome abnormalities in recurrent miscarriage [ J ]. J Assist Reprod Genet, 1999, 16(5):253-258.
  • 9Martini E, yon Bergh AR, Coonen E, et al. Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11 )(q27.3;q24.3) by triple FISH[J]. Hum Genet , 1998, 102(2) :157-165.
  • 10Rousseaux S, Chevret E, Monteil M, et al . Sperm nuclei analysis of a Robertonian t(14q;21q) carrier, by FISH, using three plasmids and two YAC probes [ J]. Hum Genet, 1995, 96 (6) :655-660.

共引文献6

中华男科学杂志
2004年 第6期

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