A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

被引:0
|
作者
Haiming Yuan
Zhe Meng
Lina Zhang
Xiangyang Luo
Liping Liu
Mengfan Chen
Xinwei Li
Weiwei Zhao
Liyang Liang
机构
[1] Sun Yat-Sen University,Sun Yat
[2] Guangzhou kingmed center for clinical laboratory Co.,Sen Memorial Hospital
[3] Ltd.,Department of Obstetrics and Gynecology
[4] KingMed School of Laboratory Medicine Guangzhou Medical University,undefined
[5] Wuhan women and children medical healthcare center,undefined
来源
关键词
Short stature ; Hypogonadism; Global developmental delay; Intellectual disability; Interstitial duplication15q15.3q21.2;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 35 条
  • [21] De novo partial duplication of chromosome 15, resulting from an unbalanced translocation of an extra segment 15p13-q22 on the short arm of a chromosome 8, in a child with severe and global development delay
    Guarducci, S
    Giunti, L
    Ricci, U
    Lapi, E
    Cecconi, A
    Coviello, S
    Sani, I
    Giotti, I
    Uzielli, MLG
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 120 - 120
  • [22] Duplication of the Xq27.3-q28 region, Including the FMR1 Gene, in an X-Linked Hypogonadism, Gynecomastia, Intellectual Disability, Short Stature, and Obesity Syndrome
    Hickey, Scott E.
    Walters-Sen, Lauren
    Mosher, Theresa Mihalic
    Pfau, Ruthann B.
    Pyatt, Robert
    Snyder, Pamela J.
    Sotos, Juan F.
    Prior, Thomas W.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (09) : 2294 - 2299
  • [23] A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
    Thiel, Christian T.
    Doerr, Helmuth-Guenther
    Trautmann, Udo
    Hoyer, Juliane
    Hofmann, Kristin
    Kraus, Cornelia
    Ekici, Arif B.
    Reis, Andre
    Rauch, Anita
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2008, 51 (04) : 362 - 367
  • [24] DE NOVO DELETION OF 5Q23.2-Q31.1 IN A BOY WITH GLOBAL DEVELOPMENTAL DELAY, CONTRACTURES AND DYSMORPHIC FEATURES: A CONTIGUOUS GENE DELETION SYNDROME INVOLVING MORPHOGENESIS AND DNA REPAIR
    Guerin, Andrea
    Gatti, Richard
    Brown, Christina
    Meyn, M. Stephen
    Carter, Melissa
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (08) : 1702 - 1702
  • [26] A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
    Xie, Bobo
    Fan, Xin
    Lei, Yaqin
    Chen, Rongyu
    Wang, Jin
    Fu, Chunyun
    Yi, Shang
    Luo, Jingsi
    Zhang, Shujie
    Yang, Qi
    Chen, Shaoke
    Shen, Yiping
    MOLECULAR CYTOGENETICS, 2016, 9
  • [27] A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
    Bobo Xie
    Xin Fan
    Yaqin Lei
    Rongyu Chen
    Jin Wang
    Chunyun Fu
    Shang Yi
    Jingsi Luo
    Shujie Zhang
    Qi Yang
    Shaoke Chen
    Yiping Shen
    Molecular Cytogenetics, 9
  • [28] De novo microdeletions at 6q14.1 encompassing the PHIP gene in two girls with developmental delay, intellectual disability, behavioral problems obesity, and dysmorphic features
    Boughalem, A.
    Trost, D.
    Bazin, A.
    Allioux, C.
    Lantres, A.
    Kleinfinger, P.
    Zimmer, S.
    Lohmann, L.
    Luscan, A.
    Valduga, M.
    Costa, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 587 - 587
  • [29] A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies
    Yuan, Haiming
    Meng, Zhe
    Liu, Liping
    Deng, Xiaoyan
    Hu, Xizi
    Liang, Liyang
    MOLECULAR CYTOGENETICS, 2016, 9
  • [30] A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies
    Haiming Yuan
    Zhe Meng
    Liping Liu
    Xiaoyan Deng
    Xizi Hu
    Liyang Liang
    Molecular Cytogenetics, 9