Identification of a Novel Recurrent Microdeletion at 2q11.2 Associated with Dysmorphic Features and Developmental Delay

被引：0
|
作者：
Sampath, S. [1 ]
Hixson, P. [1 ]
Stankiewicz, P. [1 ]
Cheung, S. W. [1 ]
Bader, P. I. [2 ]
Patel, A. [1 ]
机构：
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Parkview Hlth Syst, Ft Wayne, IN USA
来源：
CYTOGENETIC AND GENOME RESEARCH | 2012年 / 136卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
59
引用
收藏
页码：347 / 347
页数：1
相关论文
共 50 条
  • [41] 15q11.2 Proximal Imbalances Associated With a Diverse Array of Neuropsychiatric Disorders and Mild Dysmorphic Features
    Abdelmoity, Ahmed T.
    LePichon, Jean-Baptiste
    Nyp, Sarah S.
    Soden, Sarah E.
    Daniel, Carol A.
    Yu, Shihui
    JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, 2012, 33 (07): : 570 - 576
  • [42] U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy
    Kittock, Claire M. M.
    Saifeddine, Mohamad
    Straight, Lisa
    Ward, D. Isum
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (07) : 1968 - 1972
  • [43] Novel 1q23.3q24.1 microdeletion causes short stature, cardiac abnormalities and developmental delay
    Mehta, Sarju
    Shaw-Smith, C.
    Parkin, G.
    Simonic, I.
    Willatt, L.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 : S73 - S73
  • [44] An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review
    Vlaikou, Angeliki-Maria
    Manolakos, Emmanouil
    Noutsopoulos, Dimitrios
    Markopoulos, Georgios
    Liehr, Thomas
    Vetro, Annalisa
    Ziegler, Monika
    Weise, Anja
    Kreskowski, Katharina
    Papoulidis, Ioannis
    Thomaidis, Loretta
    Syrrou, Maria
    CYTOGENETIC AND GENOME RESEARCH, 2014, 142 (04) : 227 - 238
  • [45] Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13
    Tominaga, Makiko
    Saito, Toshiyuki
    Masuno, Mitsuo
    Umeda, You
    Kurosawa, Kenji
    CONGENITAL ANOMALIES, 2020, 60 (02) : 73 - 74
  • [46] Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Zahir, Farah
    Firth, Helen V.
    Baross, Agnes
    Delaney, Allen D.
    Eydoux, Patrice
    Gibson, William T.
    Langlois, Sylvie
    Martin, Howard
    Willatt, Lionel
    Marra, Marco A.
    Friedman, Jan M.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 (09) : 556 - 561
  • [47] 3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report
    Kaba, Duygu
    celik, Zerrin Yilmaz
    TURKISH JOURNAL OF PEDIATRICS, 2022, 64 (05) : 925 - 931
  • [48] Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Charles Shaw-Smith
    Alan M Pittman
    Lionel Willatt
    Howard Martin
    Lisa Rickman
    Susan Gribble
    Rebecca Curley
    Sally Cumming
    Carolyn Dunn
    Dimitrios Kalaitzopoulos
    Keith Porter
    Elena Prigmore
    Ana C V Krepischi-Santos
    Monica C Varela
    Celia P Koiffmann
    Andrew J Lees
    Carla Rosenberg
    Helen V Firth
    Rohan de Silva
    Nigel P Carter
    Nature Genetics, 2006, 38 : 1032 - 1037
  • [49] Novel chromosomal translocation t( 7; 14)( q36.3; q11.2) dn in a female child with dysmorphic features
    Goncalves, Jean-Pierre Antunes
    Pinheiro, Liliana
    Magalhaes, Maria Joao
    Cerqueira, Arnaldo
    Abreu, Eduarda
    Silva, Albina
    Sa, Carla
    Pereira, Almerinda
    JOURNAL OF PEDIATRIC AND NEONATAL INDIVIDUALIZED MEDICINE, 2014, 3 (01):
  • [50] Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Shaw-Smith, Charles
    Pittman, Alan M.
    Willatt, Lionel
    Martin, Howard
    Rickman, Lisa
    Gribble, Susan
    Curley, Rebecca
    Cumming, Sally
    Dunn, Carolyn
    Kalaitzopoulos, Dimitrios
    Porter, Keith
    Prigmore, Elena
    Krepischi-Santos, Ana C. V.
    Varela, Monica C.
    Koiffmann, Celia P.
    Lees, Andrew J.
    Rosenberg, Carla
    Firth, Helen V.
    de Silva, Rohan
    Carter, Nigel P.
    NATURE GENETICS, 2006, 38 (09) : 1032 - 1037
12345