Balanced chromosomes 12 and 13; t(12;13)(q15;q14) with microdeletion in RB1 gene without retinoblastoma

被引:0
|
作者
Ahmad, NN [1 ]
Singh, A [1 ]
Dixon, P [1 ]
Shields, JS [1 ]
Donoso, LA [1 ]
机构
[1] WILLS EYE HOSP & RES INST,PHILADELPHIA,PA 19107
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:1542 / 1542
页数:1
相关论文
共 50 条
  • [21] t(12;13)(q14;q31) leading to HMGA2 upregulation in acute myeloid leukaemia
    Nyquist, Kaja B.
    Panagopoulos, Ioannis
    Thorsen, Jim
    Roberto, Roberta
    Wik, Hilde S.
    Tierens, Anne
    Heim, Sverre
    Micci, Francesca
    BRITISH JOURNAL OF HAEMATOLOGY, 2012, 157 (06) : 769 - 771
  • [22] Intravenous leiomyomatosis is characterized by a der(14)t(12;4)(q15;q24)
    Dal Cin, P
    Quade, BJ
    Neskey, DM
    Kleinman, MS
    Weremowicz, S
    Morton, CC
    GENES CHROMOSOMES & CANCER, 2003, 36 (02): : 205 - 206
  • [23] An Intellectually Disabled Patient With the 5q14.3q15 Microdeletion Syndrome Associated With an Apparently De Novo t(2;5)(q13;q14)
    Toral-Lopez, Jaime
    Buentello-Volante, Beatriz
    Balderas-Minor, Marta M.
    Amezcua-Herrera, Carmen
    Valdes-Miranda, Juan M.
    Ma Gonzalez-Huerta, Luz
    Gudino, Marco
    Cuevas-Covarrubias, Sergio A.
    Carlos Zenteno, Juan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 942 - 946
  • [24] Simultaneous Occurrence of Biphenotypic T Cell/Myeloid Lesions Involving t(12;13)(p13;q14) in a Pediatric Patient
    Borba, Claudio Carneiro
    Chauffaille, Maria de Lourdes
    Sanabnai, Sabri Saeed
    Fernandes, Juliana Folloni
    Kumeda, Cristina Aiko
    Rodrigues Pereira Velloso, Elvira Deolinda
    dos Santos, Katia Jarandilha
    Vieira Pupim, Marcia Puato
    Hamerschlak, Nelson
    Filho, Vicente Odone
    Bendit, Israel
    ACTA HAEMATOLOGICA, 2012, 127 (03) : 165 - 169
  • [25] 46,XX,t(5;12)(q15;q13)伴智力低下一例
    赵蕊
    叶志纯
    中国优生与遗传杂志, 2003, (06) : 66 - 66
  • [26] COL2A1 Gene Disruption by a Balanced Translocation t(12;15)(q13;q22.2) in Familial Stickler Syndrome
    Dupont, Celine
    Baumann, Clarisse
    Le Du, Nathalie
    Schaefer, Elise
    Guimiot, Fabien
    Boutaud, Lucile
    Capri, Yline
    Spaggiari, Emmanuel
    Aboura, Azzedine
    Benzacken, Brigitte
    Tabet, Anne-Claude
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (10) : 2663 - 2665
  • [27] Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14
    Skrypnyk, C
    Bartsch, O
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (04) : 397 - 401
  • [28] 46,XY,T (12,17) (Q15,Q25) BALANCED RECIPROCAL TRANSLOCATION WITH ABNORMAL PHENOTYPE - POSSIBLE EFFECT OF 12Q15 POSITION
    COCO, R
    GALLEGO, M
    DELVALLETORRADO, M
    MEDICINA-BUENOS AIRES, 1979, 39 (06) : 771 - 772
  • [29] Novel chromosomal translocations in multiple myeloma: t(13;16)(q14;q24) and t(1;15)(q10;q26)
    Akalin, I.
    Kutlay, N. Y.
    Ilhan, O.
    Tukun, A.
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2007, 29 (03) : 215 - 220
  • [30] CLEAR CELL-SARCOMA WITH T(12-22) (Q13-14-Q12)
    PEULVE, P
    MICHOT, C
    VANNIER, JP
    TRON, P
    HEMET, J
    GENES CHROMOSOMES & CANCER, 1991, 3 (05): : 400 - 402