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染色体异常核型二个家系

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摘要 例1,女,32岁,继发闭经,原发不孕就诊。查体:身高153cm,体重46kg,表型智力正常。乳房对称发育,有腋毛,外阴发育正常。B超:子宫明显偏小,21mm×21mm×18mm,双侧附件区仅见卵巢样痕迹.性激素检查:促黄体生成素0.8U/L(参考范围2.1~10.9U/L),卵泡刺激素1.6U/L(参考范围3.8~8.8U/L),雌二醇41.0pmol/L(参考范围88-410pmol/L),睾酮0.4pmol/L(参考范围0~2.6pmol/L)。细胞遗传学检查:外周血淋巴细胞培养,常规制备染色体,胰酶G带法显带,
出处 《温州医学院学报》 CAS 2008年第1期90-91,共2页 Journal of Wenzhou Medical College
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  • 1俞德祺,杨君瑞.69对自然流产夫妇的细胞遗传学分析[J].温州医学院学报,1994,24(3):170-171. 被引量:1
  • 2辜士扬 张秀玲 马堪悦.原发闭经的细胞遗传学研究.中华医学杂志,1980,60(10):593-593.
  • 3Brown CJ, Ballabio A, Rupert JL, et al. A gene from the region of the human X inaetivation eentre is expressed exelusinely from the inaetive X ehromosome[J]. Nature, 1991,349(6304) : 38-44.
  • 4Stankiewicz P, Bocian E, Jakubow-Durska K, et al. Identification of supernumerary marker chromosome derived from chromosome 5, 19, and 20 using FISH[J]. J Med Genet,2000,37(2) :114-120.
  • 5Hoo JJ, Salafsky IS, Lin CC, et al. Possible localization of a recessive testis forming gene qn 9p24[J]. Am J Hum Genet,1989.45[Suppl] : A73-74.
  • 6Wilkie AO, Campbell FM, Daubeney P, et al. Complete and partial XY sex reversal associated with terminal deletion of 10q:Report of 2 case and literature review[J]. Am J Hum Genet,1993,46(5) :597-600.
  • 7Evans JA, Canning N, Hunter AGW, et al. A cytogentic survey of 14 069 newborn infants Ⅲ: an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations[J]. Cytogenet Cell Genet, 1978, 20: 96-123.
  • 8Jacobs PA. Structural rearrangements of the chromosomes in man. In: Hook EB, Portor IH, eds. Population Cytogenetics[M]. New York: Academic Press,1977. 81-97.
  • 9Bugge M, Bruun-Petersen G, Brondum-Nielsen K, et al. Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man[J]. J Med Genet, 2000, 37: 858-865.
  • 10Cox JJ, Holden ST, Dee S, et al. Identification of a 650 Kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation[J]. J Med Genet, 2003, 40: 169-174.

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