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先天性并指畸形Ⅰ型一家系报告 被引量：1

Case Report of Syndactyly Type Ⅰ in Chinese Kindred
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摘要 目的:探讨先天性并指畸形Ⅰ型的遗传和临床特征。方法:回顾分析1例先天性并指畸形Ⅰ型患者的临床资料,并调查该家系发病情况,绘制家族发病系谱。结果:调查发现该家系4代20人中现存先天性并指(趾)畸形者8例,其中7人均患手足并指,1人仅足部分并趾,其余12人手足均正常。结论:先天性并指畸形Ⅰ型符合常染色体显性遗传特点。 Objective： To investigate the genetic and clinical features of Syndactyly typeⅠ. Methods： Retrospective analysis of one case of Chinese kindred suffered from Syndactyly typeⅠ was done and a pedigree was drawn. Results： The pedigree showed a four-generation Han Chinese family. There were 20 members in the family. And 8 of them suffered from syndactyly type Ⅰ（ 7 of them showed syndactyly in hands and feet,1 of them only showed syndactyly in feet）,the remaining 12 were normal. Conclusion：Congenital syndactyly typeⅠis consistent with autosomal dominant inheritance.
作者 陈登奕 崔曦 齐常平 周欣 齐硕 师秀艳
机构地区 沈阳医学院基础医学院 沈阳医学院附属中心医院手外科 沈阳医学院 基础医学院生物化学教研室
出处 《沈阳医学院学报》 2016年第2期112-114,共3页 Journal of Shenyang Medical College
基金 辽宁省科技厅课题(No.2015020389) 辽宁省大学生创新创业训练计划(乙类)(No.1164) 辽宁省自然科学基金项目(No.390)
关键词 并指(趾)畸形 遗传性疾病 基因 基因定位 syndactyly hereditary diseases gene gene mapping
分类号 R682.15 [医药卫生—骨科学]
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  • 1杨威,胡周军,余晓芬,李气环,张爱菊,邓曦,张爱英,高春生,刘扬,敖杨,罗会元,张学.中国人手足裂畸形患者中染色体10q24.3区域DNA重复突变的鉴定[J].中华医学杂志,2006,86(10):652-658. 被引量：11
  • 2Van Bokhoven H, Hamel BCJ, Bamshad M, et al.P63 Gene Mutations in EEC yndrome, Limb-Mammary Syndrome, and Isolated Split Hand-Split Foot Malformation Suggest a Phenotype Correlation[J].The American Journal of Human Geneties, 2001,69 (3) :481-492.
  • 3Lewis, T.Hereditary malformations of the hands and feet.IIa. Hereditary split foot[J].Treasury of Human Inheritance, 1912, 1 : 6-17.
  • 4Del Porto, G, D' Alessandro E., De Matteis, C, Lo Re, ML, Ivaldi M, Di Fusco, C.Delezione interstiziale del braccio lungo del cromosoma 7 esue correlazioni cliniche[J].Pathologica, 1983, 75 (Suppl.) :268-271.
  • 5Scherer, S.W, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes, M, Soder S, Stephens K, Pagon R A, Patton, M A, Berg M A, DonlonT, Rivera H, Pfeiffer, R A, Naritomi K, Hughes H, GenuardiM, Gurrieri F, Neri G, Lovrein E, Magems E, Tsui, L-C, Evans, J P Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1[J].Am J Hum Genet, 1994, 55:12-20.
  • 6Faiyaz ul Haque, M., Uhlhaas, S., Knapp, M., Schuler, H., Friedl, W., Ahmad, M., Propping, P.X-chromosomal split-hand/split- foot anomaly maps to Xq26. (Abstract) [J]Am.J.Hum.Genet, 1992, 51 (Suppl.) :A189 only.
  • 7Faiyaz-U1-Haque, M., Zaidi, S.H.E., King, L.M., Haque, S., Patel, M., Ahmad, M., Siddique, T., Ahmad, W., Tsui, L.-C., Cohn, D.H.Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes[J].Clin.Genet, 2005,67:93-97.
  • 8Roscioli, T., Taylor, P.J., Bohlken, A., Donald, J.A., Masel, J., Glass, I.A., Buckley, M.F.The 10q24-1inked split hand/split foot syndrome (SHFM3) :narrowing of the critical region and confirmation of the clinical phenotype[J].Am.J.Med.Genet, 2004, 124A :136-141.
  • 9Nunes, M.E., Schutt, G., Kaput, R.P., Luthardt, F., Kukolich, M., Byers, P., Evans, J.P.A second autosomal split hand/foot locus maps to chromosome 10q24-q25[J].Hum.Molec.Genet, 1995,4 : 2165-2170.
  • 10Gurrieri, F., Prinos, P., Tackels, D., Kilpatffck, M.W., Allanson, J., Genuardi, M., Vuckov, A., Nanni, L., Sangiorgi, E., Garofalo, G., Nunes, M.E., Neff, G., Schwartz, C., Tsipouras, P.A split hand- split foot (SHFM3) gene is located at 10q24-q25[J].Am.J.Med. Genet, 1996,62:427-436.

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沈阳医学院学报
2016年 第2期

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