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Turner综合征合并右位心和肌性斜颈1例

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出处 《广东医学院学报》 2008年第2期200-201,共2页 Journal of Guangdong Medical College
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参考文献7

  • 1Barr M Jr, Oman-C-anes L. Turner syndrome morphology and morphometrics; Cardiac hypoplasia as a cause of midgestation death [J]. Teratology, 2002,66(2) : 65-72.
  • 2宫剑,熊文栋,杨少燕,陈小芳,曹淑燕.Turner综合征的核型、临床表现与性激素的分析[J].中国优生与遗传杂志,2007,15(3):44-45. 被引量:13
  • 3Constantine A,Owen M, Turner syndrome: an update [J]. Endocrinologist, 2005,15 (1) :27-36.
  • 4Korpal-Szczyrska M, Aleszewicz-Baranowska J, Dorant B, et al. Cardiovascular malformations in Turner syndrome [J]. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw, 2005, 11(4) :211-214.
  • 5Zuffardi O, Fraccaro M. Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus [J]. Hum Genet, 1982,62(3):280-281.
  • 6杜娟,谭跃球,李麓芸,卢光琇.13q部分三体的分子细胞检测及其与斜颈体征的可能关系[J].中华医学遗传学杂志,2003,20(3):189-192. 被引量:9
  • 7Rao W, Carpenter NJ, Gucsavas M, et al. Partial trisomy 13q identified by sequential fluorescence in situ hybridization [J]. Am J Med Genet,1995,58(1) :50-53.

二级参考文献12

  • 1Monroy, Lopez M, Cervantes A, et al. Microsatellite analysis in Turner syndrome : parental origion of x chromosomes and possible mechanism of formation of abnormal chromosomes [J]. Am J Med Genet , 2002 , 107 (3) : 181 -1871.
  • 2Saenger P. New Eng J Med, 1996,335 (23) : 1749.
  • 3Saenger P. J Clin Endocrino Metab,1993,77(2) :297.
  • 4Lespinass J, Gicquel C, Robert M, et al. Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome [ J ]. Clin Genet, 1998 ,54 (1) :56 -59.
  • 5Therman E, Laxova R , Susman B , et al. The crirical region on the human Xq[J]. Hum Genet ,1990 ,85:455.
  • 6Therman E,Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female :a hypothesis[J]. Hum Genet ,1990 , 85:175.
  • 7Maraschio P, Tuple R , Berbierato , et al. An analysis of Xq deletions[J]. Hum Genet ,1991 ,97:375.
  • 8Claudia Geerkens, et al. Deletions of Xq and grouth deficit [J]. Am J Med Genet ,1994 ,50:105.
  • 9Cynthia M, Powell R, Taggart T, et al. Molecular and cytogenetic studies of an X;antosome tyanslocation in a patient with premature ovarian failure and review of the literature [J]. Am J Med Genet ,1994,52 : 19.
  • 10郝胜菊,胡秀琴.32例Turner征核型及性激素分析[J].中国优生与遗传杂志,2001,9(2):45-46. 被引量:5

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