Microduplication at 10q24 causing Split Hand Foot Malformation (SHFM) in an extensive pedigree

被引:0
|
作者
Harrison, Victoria [1 ]
Williams, R. [1 ]
Connell, L. [2 ]
Kini, U. [1 ]
Blair, E. [1 ]
机构
[1] Churchill Hosp, Dept Clin Genet, Oxford, England
[2] Churchill Hosp, Reg Genet Lab, Oxford, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S48 / S48
页数:1
相关论文
共 50 条
  • [21] A search for causative genes of split hand/foot malformation (SHFM3).
    Kano, H
    Kurahashi, H
    Toda, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 321 - 321
  • [22] Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report
    Akimova, Daria
    Markova, Tatiana
    Ampleeva, Maria
    Skoblov, Mikhail
    FRONTIERS IN GENETICS, 2024, 14
  • [23] The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype
    Roscioli, T
    Taylor, PJ
    Bohlken, A
    Donald, JA
    Masel, J
    Glass, IA
    Buckley, MF
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (02) : 136 - 141
  • [24] A split hand split foot locus maps on chromosome 10q24-10q25.
    Kilpatrick, MW
    Prinos, P
    Vuckoy, AM
    Tackels, D
    Gurrieri, F
    Neri, G
    Schwartz, C
    Tsipouras, P
    PEDIATRIC RESEARCH, 1996, 39 (04) : 862 - 862
  • [25] Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients
    Elliott, Alison M.
    Evans, Jane A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (13) : 1419 - 1427
  • [26] Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
    Dimitrov, B. I.
    de Ravel, T.
    Van Driessche, J.
    de Die-Smulders, C.
    Toutain, A.
    Vermeesch, J. R.
    Fryns, J. P.
    Devriendt, K.
    Debeer, P.
    JOURNAL OF MEDICAL GENETICS, 2010, 47 (02) : 103 - 111
  • [27] Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3
    Qiu, Liyan
    Li, Caimin
    Zheng, Guiyun
    Yang, Tuyin
    Yang, Fang
    CLINICAL GENETICS, 2022, 102 (05) : 451 - 456
  • [28] Genetic analysis of a congenital split-hand/split-foot malformation 4 pedigree
    Yang, Xiao
    Lin, Xinfu
    Zhu, Yaobin
    Luo, Jiewei
    Lin, Genhui
    MOLECULAR MEDICINE REPORTS, 2018, 17 (06) : 7553 - 7558
  • [29] Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21
    Tackels-Horne, D
    Toburen, A
    Sangiorgi, E
    Gurrieri, F
    de Mollerat, X
    Fischetto, R
    Causio, F
    Clarkson, K
    Stevenson, RE
    Schwartz, CE
    CLINICAL GENETICS, 2001, 59 (01) : 28 - 36
  • [30] Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct
    Elliott, Alison M.
    Scott, William J., Jr.
    Chudley, Albert E.
    Reed, Martin H.
    Evans, Jane A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (09) : 2809 - 2814