An inherited 2q13 deletion in a patient with Marfan syndrome

被引:0
|
作者
Rasplickova, Tereza [1 ,2 ]
Vlckova, Marketa [1 ,2 ]
Cibochova, Renata [1 ,3 ]
Cibulkova, Petra [4 ]
Indrakova, Jana [4 ]
Drabova, Jana [1 ,2 ]
Moslerova, Veronika [1 ,2 ]
Novotna, Drahuse [1 ,2 ]
Kocarek, Eduard [1 ,2 ]
机构
[1] Charles Univ Prague, Fac Med 2, Prague, Czech Republic
[2] Univ Hosp Motol, Dept Biol & Med Genet, Prague, Czech Republic
[3] Univ Hosp Motol, Dept Neurol, Prague, Czech Republic
[4] Agel Labs, Dept Med Genet, Lab Mol Biol, Novy Jicin, Czech Republic
来源
MOLECULAR CYTOGENETICS | 2017年 / 10卷
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
F1
引用
收藏
页数:1
相关论文
共 50 条
  • [21] Retinoblastoma and the 13q deletion syndrome
    Ganesh, A
    Kenue, RK
    Mitra, S
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2001, 38 (04) : 247 - 250
  • [22] Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
    Wolfe, Kate
    McQuillin, Andrew
    Alesi, Viola
    Labis, Elise Boudry
    Cutajar, Peter
    Dallapiccola, Bruno
    Dentici, Maria Lisa
    Dieux-Coeslier, Anne
    Duban-Bedu, Benedicte
    Hjortshoj, Tina Duelund
    Goel, Himanshu
    Loddo, Sara
    Morrogh, Deborah
    Mosca-Boidron, Anne-Laure
    Novelli, Antonio
    Olivier-Faivre, Laurence
    Parker, Jennifer
    Parker, Michael J.
    Patch, Christine
    Pelling, Anna L.
    Smol, Thomas
    Tumer, Zeynep
    Vanakker, Olivier
    van Haeringen, Arie
    Vanlerberghe, Clemence
    Strydom, Andre
    Skuse, David
    Bass, Nick
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2018, 177 (04) : 397 - 405
  • [23] Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications
    Costain, Gregory
    Lionel, Anath C.
    Fu, Fiona
    Stavropoulos, Dimitri J.
    Gazzellone, Matthew J.
    Marshall, Christian R.
    Scherer, Stephen W.
    Bassett, Anne S.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2014, 165 (04) : 337 - 344
  • [24] ASSOCIATION OF A HERITABLE FRAGILE SITE AT 2Q13 WITH FETAL DEMISE
    JACKY, PB
    BERRY, TL
    FREESEMANN, SM
    FOXLEY, RA
    LAMB, OA
    LANGLOIS, MI
    MEAGHER, KL
    OLSON, CL
    RUBINSTEIN, JS
    REISS, JA
    WEEKS, FF
    YOSHITOMI, MJ
    CYTOGENETICS AND CELL GENETICS, 1995, 69 (1-2): : 118 - 118
  • [25] A boy with developmental delay and a maternally inherited deletion in 15q11q13
    King, M
    Hardy, C
    Asenbauer, B
    Kilpatrick, M
    Webb, T
    JOURNAL OF MEDICAL GENETICS, 1996, 33 (05) : 422 - 425
  • [26] Neonatal Marfan Syndrome by Inherited Mutation
    Gioia Mastromoro
    Valentina Guida
    Raffaella Cellitti
    Viviana Cardilli
    Alessandro De Luca
    Antonio Pizzuti
    Paolo Versacci
    The Indian Journal of Pediatrics, 2021, 88 : 176 - 177
  • [27] Neonatal Marfan Syndrome by Inherited Mutation
    Mastromoro, Gioia
    Guida, Valentina
    Cellitti, Raffaella
    Cardilli, Viviana
    De Luca, Alessandro
    Pizzuti, Antonio
    Versacci, Paolo
    INDIAN JOURNAL OF PEDIATRICS, 2021, 88 (02): : 176 - 177
  • [28] Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion
    Neubert, Gerda
    von Au, Katja
    Drossel, Katrin
    Tzschach, Andreas
    Horn, Denise
    Nickel, Renate
    Kaindl, Angela M.
    GENE, 2013, 512 (02) : 453 - 455
  • [29] 2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient
    Prontera, Paolo
    Bernardini, Laura
    Stangoni, Gabriela
    Capalbo, Anna
    Rogaia, Daniela
    Ardisia, Carmela
    Novelli, Antonio
    Dallapiccola, Bruno
    Donti, Emilio
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) : 706 - 712
  • [30] 5q duplication and 13q deletion in a patient with Fanconi anemia associated with Myelodysplastic syndrome
    Bennour, H. Sennana
    Omri, H. E. L.
    Khelif, A.
    Saad, A.
    CHROMOSOME RESEARCH, 2007, 15 : 218 - 219