de novo interstitial deletions at the 11q23.3-q24.2 region

被引：0
|
作者：
Jiasun Su
Rongyu Chen
Jingsi Luo
Xin Fan
Chunyun Fu
Jin Wang
Sheng He
Xuyun Hu
ShuJie Zhang
Shang Yi
Shaoke Chen
Yiping Shen
机构：
[1] Guangxi Maternal and Child Health Hospital,Department of Genetic and Metabolic Central Laboratory
[2] Boston Children’s Hospital,Department of Laboratory Medicine
来源：
Molecular Cytogenetics | / 9卷
关键词：
Jacobsen syndrome; Contiguous gene deletion syndrome; Chromosomal microarray; Interstitial deletion;
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 50 条
  • [1] de novo interstitial deletions at the 11q23.3-q24.2 region
    Su, Jiasun
    Chen, Rongyu
    Luo, Jingsi
    Fan, Xin
    Fu, Chunyun
    Wang, Jin
    He, Sheng
    Hu, Xuyun
    Zhang, ShuJie
    Yi, Shang
    Chen, Shaoke
    Shen, Yiping
    MOLECULAR CYTOGENETICS, 2016, 9
  • [2] A patient with a de novo 11q24.2→qter deletion
    Spruijt, L
    Fryns, JP
    Hanekom, J
    Engelen, JJM
    Alofs, M
    Albrechts, JCM
    Schrander-Stumpel, CTRM
    GENETIC COUNSELING, 2004, 15 (01): : 1 - 7
  • [3] Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
    Tzschach, A
    Krause-Plonka, I
    Menzel, C
    Kalscheuer, V
    Toennies, H
    Scherthan, H
    Knoblauch, A
    Radke, M
    Ropers, HH
    Hoeltzenbein, M
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (05) : 496 - 502
  • [4] A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES
    Cetin, Z.
    Altiok-Clark, O.
    Yakut, S.
    Guzel-Nur, B.
    Mihci, E.
    Berker-Karauzum, S.
    GENETIC COUNSELING, 2016, 27 (01): : 51 - 66
  • [5] De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature
    Kurt Colak, Fatma
    Eyerci, Nilnur
    Lafci, Naz Guleray
    CLINICAL DYSMORPHOLOGY, 2022, 31 (04) : 174 - 180
  • [6] A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
    Courtens, Winnie
    Wauters, Jan
    Wojciechowski, Marek
    Reyniers, Edwin
    Scheers, Stefan
    van Luijk, Rob
    Rooms, Liesbeth
    Kooy, Frank
    Wuyts, Wim
    CLINICAL DYSMORPHOLOGY, 2007, 16 (04) : 231 - 239
  • [7] De novo 10q22 interstitial deletion
    Cook, L
    Weaver, DD
    Hartsfield, JK
    Vance, GH
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (01) : 71 - 72
  • [8] A case with de novo interstitial deletion of chromosome 7q21.1-q22
    Manguoglu, E
    Berker-Karaüzüm, S
    Baumer, A
    Mihçi, E
    Taçoy, S
    Lüleci, G
    Schinzel, A
    GENETIC COUNSELING, 2005, 16 (02): : 155 - 159
  • [9] De novo duplication and deletions at 7q in a three-generation family
    Isidor, Bertrand
    Villa, Olaya
    Pichon, Olivier
    Briand, Annaig
    Poulain, Damien
    Boisseau, Pierre
    Alberto Perez-Jurado, Luis
    Le Caignec, Cedric
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (06) : 1493 - 1497
  • [10] Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
    Chen, Rongyu
    Li, Chuan
    Xie, Bobo
    Wang, Jin
    Fan, Xin
    Luo, Jingsi
    Hu, Xuyun
    Chen, Shaoke
    Shen, Yiping
    MOLECULAR CYTOGENETICS, 2014, 7
12345