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3号环状染色体综合征一例 被引量：6

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摘要 患儿男．4岁．第1胎．孕39周剖腹产，出生体重2．5kg。因“身材矮小”来我院就诊。查体：身高90cnt（正常值：98．7～107．2cm）．体重14kg（正常值14．8～18．7kg）．小头畸形．脸窄．鼻宽，嘴角下垂。颅脑脑垂体核磁共振扫描，心脏彩超．腹部B超均未见异常。语言发育稍滞后。6岁时随访，身高107cm（正常值：111．2～121.0cm），体重16．5kg（正常值：18．4～23．6kg），学习接受能力尚可．智力发育与同龄人无明显差异。母孕龄32岁，父34岁．父母表型正常．非近亲婚配．母孕时有搬新居．化学物质接触史，否认家旅遗传病史。
作者 王红英 薛永权 何亚香 张俊 吴亚芳 丁云芳
机构地区 江苏省苏州大学附属儿童医院检验科细胞遗传室 苏州大学附属第一人民医院血研所
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2009年第5期594-594,共1页 Chinese Journal of Medical Genetics
关键词 染色体综合征 环状 出生体重 核磁共振扫描 正常值 身材矮小 小头畸形 腹部B超
分类号 R686 [医药卫生—骨科学]
  • 相关文献

参考文献3

  • 1Piccianorn DJ,Berlin CM,Davenport SL,et al.Human ring chromosomes:a report of five cases.Ann Genet,1972,15:241-247.
  • 2Kitatani M,Takahashi H,Yasuda J,et al.A case of ring chromosome 3,46,XX,-3,+r(3)(p26q29).J pn J Human Genet,1984,29:157-162.
  • 3韩振靓,李堂.SHOX基因在矮身材中的研究进展[J].国外医学（内分泌学分册）,2005,25(4):280-283. 被引量：1

二级参考文献21

  • 1Rao E, Blaschke RJ, Marchini A, et al. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet, 2001,10: 3083-3091.
  • 2Munns CJ, Haase HR, Crowther LM, et al. Expression of SHOX in human fetal and childhood growth plate. J Clin Endocrinol Metab, 2004,89:4130-4135.
  • 3Marchini A, Marttila T, Winter A, et al. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J Biol Chem, 2004,279: 37103-37114.
  • 4Sabherwal N, Schneider KU, Blaschke R J, et al. Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome. J Cell Sci,2004,117: 3041-3048.
  • 5Sabherwal N, Blaschke R J, Marchini A, et al. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia. J Med Genet,2004,41: e83-e87.
  • 6Morizio E, Stuppia L, Gatta V, et al. Deletion of the SHOX gene in patients with short stature of unknown cause. Am J Med Genet,2003,119A: 293 -296.
  • 7Rappold GA, Fukami M, Niesler B, et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab, 2002,87:1402-1406.
  • 8Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab, 2000,85: 245-249.
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  • 10Zinn AR, Wei F, Zhang L, et al. Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet,2002,110:158-163.

同被引文献31

  • 1张秀玲,李岩,张颖.18号环状染色体一例[J].中华医学遗传学杂志,2006,23(2):201-201. 被引量：3
  • 2Chaabouni M, Turleau C, Karboul L, et al. De novo trisomy 20p of paternal origin[J]. Am J Med Genet A, 2007, 143A(10) : 1100 - 1103.
  • 3Fernandez T, Morgan T, Davis N, et al. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome[J]. Am J Hum Genet, 2004, 74(6) : 1286 -1293.
  • 4Archidiacono N, Tecilazich D, Tonini G, et al. Trisomy 20p from maternal t(3;20) translocation[J]. J Med Genet, 1979, 16(3): 229-232.
  • 5Sidwell R U, Pinson M P, Gibbons B, et al. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation [ J ]. J Med Genet, 2000, 37(6) : 454 -458.
  • 6Molina-Gomes D, Nebout V, Daikha-Dahmane F, et al. Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling [J]. Prenat Diagn, 2006, 26(3) : 239 -241.
  • 7Gardner R J M, Sutherland G R. Chromosome abnorroalities and genetic counseling[M]. 3rd. New York: Oxford University Press, 2004:87 -97.
  • 8Taylor K M, Wolfinger H L, Brown M G, et al. Partial trisomy 20p derived from a t(18;20) translocation[J]. Hum Genet, 1976, 34 (2) : 155 - 162.
  • 9Thomas M A, Duncan A M, Bardin C, et al. Lissencephaly with der (17)t(17;20) (p13. 3;p12. 2) mat[J]. Am J Med Genet A, 2004, 124A(3) : 292 -295.
  • 10Pezzolo A,Ginelli G,Cohen A,et al.Presence of telomeric and subterlomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring in stability[J].Hum Genet,1993,92:23.

引证文献6

二级引证文献12

中华医学遗传学杂志
2009年 第5期

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