Are the phenotypic features of a large interstitial deletion 11q14.2-11q23.1 distinct from Jacobsen Syndrome (terminal deletion 11q)?

被引:0
|
作者
Theda, C
Soto, EMG
Cargile, CB
Hendi, N
Miller, MK
机构
[1] Johns Hopkins Univ, Sch Med, Baltimore, MD USA
[2] Kennedy Krieger Inst, Baltimore, MD USA
[3] Frederick Mem Hosp, Frederick, MD USA
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
647
引用
收藏
页码:127 / 127
页数:1
相关论文
共 50 条
  • [1] INTERSTITIAL DELETION OF 11Q
    GUCSCEKIC, M
    PILICRADIVOJEVIC, G
    MRDJENOVIC, G
    DJURIC, M
    JOURNAL OF MEDICAL GENETICS, 1989, 26 (03) : 205 - 206
  • [2] INTERSTITIAL DELETION OF 11Q
    TAILLEMITE, JL
    BAHEUXMORLIER, G
    ROUX, C
    ANNALES DE GENETIQUE, 1975, 18 (01): : 61 - 63
  • [3] Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome
    Johnson, J. P.
    Haag, M.
    Beischel, L.
    McCann, C.
    Phillips, S.
    Tunby, M.
    Hansen, J.
    Schwanke, C.
    Reynolds, J. F.
    CLINICAL GENETICS, 2014, 85 (04) : 376 - 380
  • [4] A TERMINAL DELETION OF 11Q
    SCHWARZ, C
    MPOFU, C
    WRAITH, JE
    JOURNAL OF MEDICAL GENETICS, 1992, 29 (07) : 511 - 512
  • [5] A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype
    Evers, Christina
    Janssen, Johannes W. G.
    Jauch, Anna
    Bonin, Michael
    Moog, Ute
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (03) : 680 - 684
  • [6] Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome
    Wenger, SL
    Grossfeld, PD
    Siu, BL
    Coad, JE
    Keller, FG
    Hummel, M
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (07) : 704 - 708
  • [7] Steep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome)
    Maas, A. P. H. M.
    Grossfeld, P. D.
    Didden, R.
    Korzilius, H.
    Braam, W. J.
    Smits, M. G.
    Curfs, L. M. G.
    GENETIC COUNSELING, 2008, 19 (02): : 225 - 235
  • [8] The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency
    Dalm, Virgil A. S. H.
    Driessen, Gertjan J. A.
    Barendregt, Barbara H.
    van Hagen, Petrus M.
    van der Burg, Mirjam
    JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (08) : 761 - 768
  • [9] The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency
    Virgil A. S. H. Dalm
    Gertjan J. A. Driessen
    Barbara H. Barendregt
    Petrus M. van Hagen
    Mirjam van der Burg
    Journal of Clinical Immunology, 2015, 35 : 761 - 768
  • [10] 11q terminal deletion disorder (Jacobsen syndrome) with combined variable immunodeficiency (CVID)
    Puglisi, G.
    Cox, A. L.
    Bonagura, V. R.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2007, 119 (01) : S252 - S252