Deletion 2q35q36.2 presenting with features of Waardenburg syndrome and developmental delay: a case report

被引:0
|
作者
John, Shincy [1 ]
Ekstom, V. [2 ]
Connell, L. [3 ]
Kini, U. [1 ]
机构
[1] Oxford Radcliffe NHS Trust, Dept Clin Genet, Oxford, England
[2] Natl Univ Singapore, Yong Loo Lin Sch Med, Singapore 117595, Singapore
[3] Oxford Radcliffe NHS Trust, Dept Cytogenet, Oxford, 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:S50 / S50
页数:1
相关论文
共 50 条
  • [1] WAARDENBURG SYNDROME TYPE-I IN A CHILD WITH DELETION-(2) (Q35Q36.2)
    KIRKPATRICK, SJ
    KENT, CM
    LAXOVA, R
    SEKHON, GS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (05): : 699 - 700
  • [2] EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome
    Li, Chuan
    Chen, Rongyu
    Fan, Xin
    Luo, Jingsi
    Qian, Jiale
    Wang, Jin
    Xie, Bobo
    Shen, Yiping
    Chen, Shaoke
    BMC MEDICAL GENETICS, 2015, 16
  • [3] Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
    Fan, Liang-Liang
    Sheng, Yue
    Wang, Chen-Yu
    Li, Ya-Li
    Liu, Ji-Shi
    FRONTIERS IN GENETICS, 2021, 12
  • [4] A case of deletion of 4q and duplication of 10q presenting with tetralogy of Fallot, developmental delay and facial dysmorphism
    Simsek, Pelin Ozleni
    Utine, Gulen Eda
    Boduroglu, Koray
    CHROMOSOME RESEARCH, 2011, 19 : S83 - S84
  • [5] Deletion of 7q34-q36.2 in Two Siblings With Mental Retardation, Language Delay, Primary Amenorrhea, and Dysmorphic Features
    Sehested, Line T.
    Moller, Rikke S.
    Bache, Iben
    Andersen, Noemi B.
    Ullmann, Reinhard
    Tommerup, Niels
    Tumer, Zeynep
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (12) : 3115 - 3119
  • [6] De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report
    Al Dhaibani, Muna A.
    Allingham-Hawkins, Diane
    El-Hattab, Ayman W.
    BMC MEDICAL GENETICS, 2017, 18
  • [7] A SPORADIC CASE OF WAARDENBURG SYNDROME TYPE-I ASSOCIATED WITH DENOVO INV(2)(Q35Q37.3)
    ISHIKIRIYAMA, S
    TONOKI, H
    SHIBUYA, Y
    CHIN, S
    HARADA, N
    ABE, K
    NIIKAWA, N
    CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 1018 - 1018
  • [8] 20q13.2-q13.33 deletion syndrome: A case report
    Butler, Merlin G.
    Usrey, Kelly M.
    Roberts, Jennifer L.
    Manzardo, Ann M.
    Schroeder, Stephen R.
    JOURNAL OF PEDIATRIC GENETICS, 2013, 2 (03) : 157 - 161
  • [9] WAARDENBURG SYNDROME TYPE-I IN A CHILD WITH DENOVO INVERSION (2)(Q35Q37.3)
    ISHIKIRIYAMA, S
    TONOKI, H
    SHIBUYA, Y
    CHIN, S
    HARADA, N
    ABE, K
    NIIKAWA, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (04): : 505 - 507
  • [10] GENE FOR WAARDENBURG SYNDROME TYPE-I IS LOCATED AT 2Q35, NOT AT 2Q37.3
    ISHIKIRIYAMA, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (05): : 608 - 608