ABERRANT SUBTELOMERIC REARRANGEMENT IN CHROMOSOME 2 IN PAEDIATRIC PATIENT WITH DEVELOPMENTAL/MENTAL DELAY

被引:0
|
作者
Bello, Y. [1 ]
Juan, J. [2 ]
Zuniga, A. [1 ]
Molio, P. [1 ]
Hurtado, F. [1 ]
Guerrero, A. [1 ]
机构
[1] Hosp Univ Ribera, Serv Biol Mol, E-46600 Valencia, Spain
[2] Hosp Univ Ribera, Serv Neurol Infantil, E-46600 Valencia, Spain
关键词
D O I
暂无
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:S450 / S450
页数:1
相关论文
共 50 条
  • [1] Obesity and developmental delay in a patient with uniparental disomy of chromosome 2
    T Yu
    J Li
    N Li
    R Liu
    Y Ding
    G Chang
    Y Chen
    Y Shen
    X Wang
    J Wang
    [J]. International Journal of Obesity, 2016, 40 : 1935 - 1941
  • [2] Obesity and developmental delay in a patient with uniparental disomy of chromosome 2
    Yu, T.
    Li, J.
    Li, N.
    Liu, R.
    Ding, Y.
    Chang, G.
    Chen, Y.
    Shen, Y.
    Wang, X.
    Wang, J.
    [J]. INTERNATIONAL JOURNAL OF OBESITY, 2016, 40 (12) : 1935 - 1941
  • [3] Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
    Wu, Ye
    Ji, Taoyun
    Wang, Jingmin
    Xiao, Jing
    Wang, Huifang
    Li, Jie
    Gao, Zhijie
    Yang, Yanling
    Cai, Bin
    Wang, Liwen
    Zhou, Zhongshu
    Tian, Lili
    Wang, Xiaozhu
    Zhong, Nan
    Qin, Jiong
    Wu, Xiru
    Jiang, Yuwu
    [J]. BMC MEDICAL GENETICS, 2010, 11
  • [4] DEVELOPMENTAL DELAY IN A PATIENT WITH THREE INHERITED CHROMOSOME REARRANGEMENTS
    Pires, Silvia
    Candeias, Cristina
    Freitas, Manuela M.
    Soares, Ana R.
    Oliva-Teles, Natalia
    [J]. MEDICINE, 2023, 102 (13)
  • [5] Developmental delay, mental retardation and facial dysmorphism due to subtelomeric deletion of 7q
    Cetin, G. Ozan
    Okur, Volkan
    Kalkan, Tarkan
    Olmez, Akgun
    Tepeli, Emre
    Duzcan, Fusun
    [J]. CHROMOSOME RESEARCH, 2011, 19 : S95 - S95
  • [6] Complex constitutive rearrangement involving chromosome 15 in a girl with postnatal growth and developmental delay
    Minasi, L. B.
    Pinto, I. P.
    Pinto, R. M.
    da Silva, J. F.
    Cunha, D. M.
    Ribeiro, C. L.
    da Silva, C. C.
    da Cruz, A. D.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1000 - 1001
  • [7] Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay
    Blackett, PR
    Li, SB
    Mulvihill, JJ
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (02) : 213 - 216
  • [8] Development delay in paediatric patient with deletion on chromosome 15q26.2
    Pesevska, Milica
    Anastasovska, Violeta
    Sukarova-Angelovska, Elena
    Nestoroska, Dragica
    Ilieva, Gordana
    Panovska, Sandra
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 236 - 236
  • [9] A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish
    Unbeom Shin
    Yeonsong Choi
    Hwa Soo Ko
    Kyungjae Myung
    Semin Lee
    Chong Kun Cheon
    Yoonsung Lee
    [J]. Human Genomics, 17
  • [10] A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish
    Shin, Unbeom
    Choi, Yeonsong
    Ko, Hwa Soo
    Myung, Kyungjae
    Lee, Semin
    Cheon, Chong Kun
    Lee, Yoonsung
    [J]. HUMAN GENOMICS, 2023, 17 (01)