Medulloblastoma in a patient with a balanced t (5;22)(q35.1;q11.2) affecting the NF2 gene

被引：0
|
作者：
Roque, Lucia [1 ]
Faria, Claudia [2 ]
Nunes, Sofia [3 ]
Pimentel, Jose [4 ]
机构：
[1] Portuguese Canc Inst, Mol & Pathol Invest Unit UIPM, Lisbon, Portugal
[2] Ctr Hosp Lisboa Norte, Neurosurg Dept, Lisbon, Portugal
[3] Portuguese Canc Inst, Pediat Neurol Dept, Lisbon, Portugal
[4] Ctr Hosp Lisboa Norte, Neuropathol Dept, Lisbon, Portugal
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
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：
P12.144.D
引用
收藏
页码：415 / 415
页数：1
相关论文
共 50 条
  • [1] Medulloblastoma Development in a Patient with a Constitutional Balanced t(5;22)(q35.1;q11.2) Involving the NF2 Gene
    Nunes, Sofia
    Faria, Claudia C.
    Pimentel, Jose
    Roque, Rafael Fidalgo
    Alaiz, Helena
    Salazar, Isabel
    Pereira, Teresa
    Ferreira, Filipa
    Roque, Lucia
    CASE REPORTS IN ONCOLOGY, 2023, 16 (01): : 36 - 44
  • [2] Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication
    Kehrer-Sawatzhi, H
    Assum, G
    Hameister, H
    HUMAN GENETICS, 2002, 111 (4-5) : 465 - 467
  • [3] Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication
    Hildegard Kehrer-Sawatzki
    Günter Assum
    Horst Hameister
    Human Genetics, 2002, 111 : 465 - 467
  • [4] The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account
    Kamath, Vandana
    Srivastava, Vivi M.
    Yuvarani, S.
    Chacko, Mary Purna
    Bhattacharya, Saurabh Kumar
    Oommen, Samuel Phillip
    Danda, Sumita
    Korula, George
    JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2019, 13 (01) : GC1 - GC4
  • [5] Cryptic deletion of EGR1 in association with a novel balanced t(5;22)(q31;q11.2) in a patient with myelodysplastic syndrome
    Hoffman, Matthew W.
    Janney, Stephen
    Batanian, Jacqueline R.
    CANCER GENETICS AND CYTOGENETICS, 2009, 191 (02) : 106 - 108
  • [6] 46,XY,t(10;18;21)(q22;q11.2;q11.2)一例
    陈莉莎
    于月新
    邹朋书
    陈霞慧
    马明
    中华医学遗传学杂志, 2018, (03) : 396 - 396
  • [7] Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
    Bovie, C
    Holden, ST
    Schroer, A
    Smith, E
    Trump, D
    Raymond, FL
    JOURNAL OF MEDICAL GENETICS, 2003, 40 (09) : 682 - 684
  • [8] 22q11.2 SYNDROME DUE TO MATERNAL TRANSLOCATION t(18;22) (p11.2;q11.2)
    Nur, B. G.
    Cetin, Z.
    Clark, O. A.
    Mihci, E.
    Oygur, N.
    Karauzum, S. B.
    GENETIC COUNSELING, 2015, 26 (01): : 67 - 75
  • [9] A complex t(15;22;17)(q22;q11.2;q21) variant of APL
    Ak, Bilgesu
    Gungor, Ozge
    Karaca, Emin
    Durmaz, Burak
    Bozer, Denis S.
    Tobu, Mahmut
    Akin, Haluk
    CANCER GENETICS, 2024, 286 : 48 - 51
  • [10] 45,XX,-22,der(2)t(2;22)(q37;q11.2)一例
    曾艳
    许平
    中华医学遗传学杂志, 2011, (06)
12345