Phenotypic diversity in cases of 16p11.2 microdeletion and microduplication; Implications for genetic counselling

被引:0
|
作者
Tooley, Madeleine [1 ]
Smithson, S. [1 ]
Wragg, C. [2 ]
Newbury-Ecob, R. [1 ]
机构
[1] St Michaels Hosp, SW Clin Genet Serv, Bristol, Avon, England
[2] Southmead Hosp, Bristol Genet Lab, Bristol, Avon, England
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
引用
收藏
页码:S58 / S58
页数:1
相关论文
共 50 条
  • [31] EPILEPSY IN 16P11.2 MICRODELETION: DESCRIPTION OF EPILEPTIC PHENOTYPE IN 5 CHILDREN
    Ragona, F.
    Freri, E.
    Zibordi, F.
    Rizzo, A.
    Sciacca, F.
    Girgenti, V
    Casellato, S.
    Matricardi, S.
    Binelli, S.
    Granata, T.
    EPILEPSIA, 2014, 55 : 145 - 146
  • [32] 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
    Nascimento, Livia Polisseni Cotta
    Mergener, Rafaella
    Nunes, Marcela Rodrigues
    Muniz, Victoria Feitosa
    Catao, Juliana Rossi
    da Silveira, Ana Kalise Boettcher
    Dorfman, Luiza Emy
    Graziadio, Carla
    Zen, Paulo Ricardo Gazzola
    GENES, 2023, 14 (08)
  • [33] 16p11.2 microdeletion: The most common chromosomal anomaly associated with obesity
    Rosmaninho-salgado, Joana
    Pires, Luis Miguel
    Carreira, Isabel M.
    Melo, Joana Barbosa
    Louro, Pedro
    Sa, Joaquim
    Venancio, Maria Margarida
    Almeida, Pedro
    Ribeiro, Sara
    Saraiva, Jorge M.
    Sousa, Sergio B.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2019, 49 : 81 - 82
  • [34] An adolescent with 16p11.2 microdeletion syndrome treated with dulaglutide: a case report
    Arrigoni, F.
    Olivieri, G.
    Frontino, G.
    Rigamonti, A.
    Favalli, V.
    Pajno, R.
    Sandullo, F.
    Dionisi, B.
    Foglino, R.
    Morosini, C.
    Lorentino, C.
    Matarazzo, M.
    Zanardi, E.
    Meschi, F.
    Bonfanti, R.
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 172 - 172
  • [35] Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
    Szelest, Monika
    Stefaniak, Martyna
    Reka, Gabriela
    Jaszczuk, Ilona
    Lejman, Monika
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [36] Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
    Monika Szelest
    Martyna Stefaniak
    Gabriela Ręka
    Ilona Jaszczuk
    Monika Lejman
    BMC Medical Genomics, 14
  • [37] 16p11.2 microdeletion associated to early onset benign childhood seizures
    Castro-Gago, Manuel
    Perez-Gay, Laura
    Gomez-Lado, Carmen
    Dacruz, David
    Barros-Angueira, Francisco
    REVISTA DE NEUROLOGIA, 2013, 56 (02) : 125 - 127
  • [38] What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication
    Mergener, Rafaella
    Nascimento, Livia Polisseni Cotta
    Bottcher, Ana Kalise
    Nunes, Marcela Rodrigues
    Zen, Paulo Ricardo Gazzola
    CELL BIOCHEMISTRY AND FUNCTION, 2024, 42 (07)
  • [39] Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions
    Lin, Shaobin
    Shi, Shanshan
    Zhou, Yi
    Ji, Yuanjun
    Huang, Peizhi
    Wu, Jianzhu
    Chen, Baojiang
    Luo, Yanmin
    PRENATAL DIAGNOSIS, 2018, 38 (06) : 381 - 389
  • [40] Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
    Anne-Claude Tabet
    Marion Pilorge
    Richard Delorme
    Frédérique Amsellem
    Jean-Marc Pinard
    Marion Leboyer
    Alain Verloes
    Brigitte Benzacken
    Catalina Betancur
    European Journal of Human Genetics, 2012, 20 : 540 - 546