多重连接探针扩增技术诊断Silver-Russell综合症1例

张莉,李燕

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (4) : 430-432.

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中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (4) : 430-432. DOI: 10.11852/zgetbjzz2017-25-04-33
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多重连接探针扩增技术诊断Silver-Russell综合症1例

  • 张莉,李燕
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张莉,李燕. 多重连接探针扩增技术诊断Silver-Russell综合症1例[J]. 中国儿童保健杂志. 2017, 25(4): 430-432 https://doi.org/10.11852/zgetbjzz2017-25-04-33
中图分类号: R179   

参考文献

[1] Eggermann T,Gonzalez D,Spengler S,et al.Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation[J].Pediatrics,2009,123(5):929-931.
[2] Marsaud C,Rossignol S,Tounian P,et al.Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome[J].Arch Dis Child,2015,100(4):353-358.
[3] 黄书越,巩纯秀,赵旸,等.35例Silver-Russell综合征临床特点分析总结[J].中华内分泌代谢杂志,2014,30(2):119-122.
[4] 邱丙平,黄士坤,陈春云.Russel-Silver综合征一例[J].中华儿科杂志,2006,44(1):147.
[5] Bartholdi D,Krajewska-Walasek M,Ounap K,et al.Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS):results from a large cohort of patients with SRS and SRS-like phenotypes[J].J Med Genet.2009,46(3):192-197.
[6] Netchine I,Rossignol S,Dufourg MN,et al.11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome:clinical scoring system and epigenetic-phenotypic[J].Clin Endocrinol Metab,2007,92(8):3148-3154.
[7] Bartholdi D,Krajewska-Walasek M,Ounap K,et al.Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS):results from a large cohort of patients with SRS and SRS-like phenotypes[J].Med Genet,2009,46(3):192-197.
[8] Azzi S,Salem J,Thibaud N,et al.A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome[J].Med Genet,2015,52(7):446-453.
[9] Douzgou S,Mingarelli R,Tarani L,et al.Silver-Russell syndrome following in vitro fertilization[J].Pediatr Dev Pathol,2008,11(4):329-331.
[10] Binder G,Liebl M,Woelfle J,et al.Adult height and epigenotype in children with Silver-Russell syndrome treated with GH[J].Horm Res Paediatr,2013,80(3):193-200.
[11] Saal HM.Russell-Silver Syndrome:Gene Reviews[M].Seattle WA:University of Washington,1993.
[12] Smeets CC,Zandwijken GR,Renes JS,et al.Long-term results of GH treatment in Silver-Russell Syndrome (SRS):Do They Benefit the Same as Non-SRS Short-SGA?[J] .J Clin Endocrinol Metab,2016,23:jc20154273.
[13] Takenouchi T,Awazu M,Eggermann T,et al.Adult phenotype of Russell-Silver syndrome:A molecular support for Barker-Brenner's theory[J].Congenit Anom (Kyoto),2015,55(3):167-169.


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