A de novo marker chromosome derived from chromosome 20 in a child with global developmental delay

被引:0
|
作者
Botelho, Pedro [1 ]
Souto, Marta [1 ]
Sousa, Marisa [2 ]
Sousa, Susana [2 ]
Martins, Marcia [1 ]
Moutinho, Osvaldo [1 ]
Leite, Rosario Pinto [1 ]
机构
[1] Ctr Hosp Tras Os Montes & Alto Douro, Serv Genet, Vila Real, Portugal
[2] Ctr Hosp Tras Os Montes & Alto Douro, Serv Pediat, Vila Real, Portugal
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
1.P115
引用
收藏
页码:S101 / S101
页数:1
相关论文
共 50 条
  • [1] A de novo marker chromosome 15 in a child with isolated developmental delay
    Madhavan Jeevan Kumar
    Kalpana Gowrishankar
    Venkatasubramanian Hemagowri
    Jayarama Kadandale
    [J]. Journal of Genetics, 2020, 99
  • [2] Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16
    Hengstschläger, M
    Bettelheim, D
    Drahonsky, R
    Deutinger, J
    Bernaschek, G
    [J]. PRENATAL DIAGNOSIS, 2001, 21 (06) : 477 - 480
  • [3] De Novo duplication of chromosome 13(q32-q34) in a child with developmental delay
    Milani, Donatella
    D'Arrigo, Stefano
    Guerneri, Silvana
    Selicorni, Angelo
    Riva, Daria
    Pantaleoni, Chiara
    [J]. JOURNAL OF CHILD NEUROLOGY, 2006, 21 (12) : 1084 - 1085
  • [4] A de novo chromosome 9p duplication in a female child with short stature and developmental delay
    Tkemaladze, Tinatin
    Bregvadze, Kakha
    Papiashvili, Nikoloz
    Gagua, Sopio
    Abzianidze, Elene
    [J]. SAGE OPEN MEDICAL CASE REPORTS, 2023, 11
  • [5] MOLECULAR CHARACTERIZATION OF A MARKER CHROMOSOME IN AN INDIVIDUAL WITH HYPOTONIC AND GLOBAL DEVELOPMENTAL DELAY
    GIRIDHARAN, R
    CONTE, RA
    LUKE, S
    MACERA, MJ
    VERMA, RS
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 551 - 551
  • [6] A de novo ESAC marker chromosome derived from chromosome 15 prenatally diagnosed in a fetus with macroephaly and atrium aplasia
    Kappou, D.
    Sifakis, S.
    Papadopoulou, E.
    Konstantinidou, A.
    Fragkiadaki, P.
    Patsalis, P.
    Matalliotakis, I.
    Velissariou, V.
    [J]. CHROMOSOME RESEARCH, 2009, 17 : 228 - 229
  • [7] PRENATAL DIAGNOSIS OF A DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATING FROM CHROMOSOME 16
    Yakut, S.
    Cetin, Z.
    Simsek, M.
    Karauzum, S. B.
    Tukun, A.
    Luleci, G.
    [J]. GENETIC COUNSELING, 2009, 20 (04): : 327 - 332
  • [8] Characterisation of a de novo complex chromosome abnormality in a child with global delay - the need for high resolution aCGH.
    Ellis, Richard
    Collins, E. Hawes
    Brooks, C.
    Mountford, S.
    Canham, N.
    [J]. JOURNAL OF MEDICAL GENETICS, 2009, 46 : S96 - S96
  • [9] Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7
    Louvrier, Camille
    Egea, Gregory
    Labalme, Audrey
    Des Portes, Vincent
    Gazzo, Sophie
    Callet-Bauchu, Evelyne
    Till, Marianne
    Sanlaville, Damien
    Edery, Patrick
    Schluth-Bolard, Caroline
    [J]. CYTOGENETIC AND GENOME RESEARCH, 2015, 147 (2-3) : 111 - 117
  • [10] Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay
    Aalfs, CM
    Jacobs, ME
    NiesteOtter, MA
    Hennekam, RCM
    Hoovers, JMN
    [J]. CLINICAL GENETICS, 1996, 49 (01) : 42 - 45