De novo terminal deletion of 11q [del(11)(q24.2)]

被引:0
|
作者
Pappas, JG [1 ]
Sadiq, A [1 ]
Bhatt, J [1 ]
Babu, A [1 ]
Penchaszadeh, VB [1 ]
机构
[1] Beth Israel Med Ctr, Div Med Genet, New York, NY 10003 USA
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P2101
引用
收藏
页码:95 / 95
页数:1
相关论文
共 50 条
  • [21] 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
  • [22] 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
  • [23] The 11q terminal deletion disorder: A prospective study of 110 cases
    Grossfeld, PD
    Mattina, T
    Lai, Z
    Favier, R
    Jones, KL
    Cotter, F
    Jones, C
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) : 51 - 61
  • [24] 11Q INTERSTITIAL DELETION - REPORT OF A CASE
    CASTILLEJOS, AR
    GONZALEZ, BB
    HERNANDEZ, A
    CARNEVALE, A
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1981, 33 (02): : 247 - 247
  • [25] De Novo 11q Deletion Including SHANK2 in a Patient with Global Developmental Delay
    Marcou, Cherisse A.
    Jones, April L. Studinski
    Murphree, Marine I.
    Kirmani, Salman
    Hoppman, Nicole L.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (03) : 801 - 805
  • [26] Chromosome 11q deletion in myeloid malignancies
    SK Ma
    TSK Wan
    WY Au
    LF Fung
    CK So
    LC Chan
    Leukemia, 2002, 16 : 953 - 955
  • [27] 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
  • [28] 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
  • [29] 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
  • [30] A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
    Courtens, Winnie
    Wauters, Jan
    Wojciechowski, Marek
    Reyniers, Edwin
    Scheers, Stefan
    van Luijk, Rob
    Rooms, Liesbeth
    Kooy, Frank
    Wuyts, Wim
    CLINICAL DYSMORPHOLOGY, 2007, 16 (04) : 231 - 239