A novel uncommon copy number variations in the 11p15.5 imprinting region causing Beckwith-Wiedemann and Silver-Russell Syndrome.

被引:0
|
作者
Przesor, Lukasz [1 ]
Piotrowicz, Malgorzata [1 ]
Wysocka, Urszula [1 ]
Pinkier, Iwona [1 ]
Kucinska, Agata [1 ]
Komorowska, Dominika [1 ]
Hawula, Wanda [1 ]
Kaluzewski, Tadeusz [1 ]
Kepczynski, Lukasz [1 ]
Gach, Agnieszka [1 ]
机构
[1] Inst Polish Mothers Hlth Ctr, Dept Clin Genet, Lodz, Poland
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
EP06.006
引用
收藏
页码:982 / 982
页数:1
相关论文
共 50 条
  • [21] MOLECULAR DEFINITION OF THE 11P15.5 REGION INVOLVED IN BECKWITH-WIEDEMANN SYNDROME AND PROBABLY IN PREDISPOSITION TO ADRENOCORTICAL CARCINOMA
    HENRY, I
    JEANPIERRE, M
    COUILLIN, P
    BARICHARD, F
    SERRE, JL
    JOURNEL, H
    LAMOUROUX, A
    TURLEAU, C
    DEGROUCHY, J
    JUNIEN, C
    HUMAN GENETICS, 1989, 81 (03) : 273 - 277
  • [22] Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management
    Tong, Carmen C.
    Duffy, Kelly A.
    Chu, David I.
    Weiss, Dana A.
    Srinivasan, Arun K.
    Canning, Douglas A.
    Kalish, Jennifer M.
    UROLOGY, 2017, 100 : 224 - 227
  • [23] Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann Syndromes
    Demars, J.
    Le Bouc, Y.
    El-Osta, A.
    Gicquel, C.
    CURRENT MEDICINAL CHEMISTRY, 2011, 18 (12) : 1740 - 1750
  • [24] Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes
    Demars, J.
    Gicquel, C.
    CLINICAL GENETICS, 2012, 81 (04) : 350 - 361
  • [25] GOK gene maps at 11p15.5, a chromosome region involved in Beckwith-Wiedemann syndrome and rhabdoid tumor development
    Rouayrenc, JF
    M S-MEDECINE SCIENCES, 1998, 14 (04): : 521 - 522
  • [26] Sudden death in an infant attributed to arrhythmia associated with Beckwith-Wiedemann Syndrome due to hypomethylation of imprinting control region 2 on chromosome 11p15.5
    Petkovic, Grace
    Sethi, Aashish
    Apperley, Louise
    Senniappan, Senthil
    Blair, Joanne
    Kokai, George
    Didi, Mohammed
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 445 - 445
  • [27] Prenatal diagnosis of paternal duplication of 11p15.5→ 14.3: Its implication of Beckwith-Wiedemann syndrome
    Chen, Kuan Ju
    Liu, Yu Mei
    Li, Chien Hong
    Chang, Yao Lung
    Chang, Shuenn Dyh
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2016, 55 (06): : 877 - 880
  • [28] A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes (vol 8, 23, 2016)
    Russo, Silvia
    Calzari, Luciano
    Mussa, Alessandro
    Mainini, Ester
    Cassina, Matteo
    Di Candia, Stefania
    Clementi, Maurizio
    Guzzetti, Sara
    Tabano, Silvia
    Miozzo, Monica
    Sirchia, Silvia
    Finelli, Palma
    Prontera, Paolo
    Maitz, Silvia
    Sorge, Giovanni
    Calcagno, Annalisa
    Maghnie, Mohamad
    Divizia, Maria Teresa
    Melis, Daniela
    Manfredini, Emanuela
    Ferrero, Giovanni Battista
    Pecile, Vanna
    Larizza, Lidia
    CLINICAL EPIGENETICS, 2016, 8
  • [29] High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome
    Baskin, Berivan
    Choufani, Sanaa
    Chen, Yi-an
    Shuman, Cheryl
    Parkinson, Nicole
    Lemyre, Emmanuelle
    Innes, A. Micheil
    Stavropoulos, Dimitri J.
    Ray, Peter N.
    Weksberg, Rosanna
    HUMAN GENETICS, 2014, 133 (03) : 321 - 330
  • [30] A rare case of Beckwith-Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin
    Ferreira, Cristina
    Marques, Barbara
    Alves, Cristina
    Barbosa, Mafalda
    Fortuna, Ana
    Reis-Lima, Margarida
    Correia, Hildeberto
    CHROMOSOME RESEARCH, 2011, 19 : S85 - S86