Submicroscopic Distal Deletion of the Long Arm of Chromosome 13(13q34) With Corpus Callosum Agenesis

被引：6
|
作者：
Witters, Ingrid [1 ]
Chabchoub, Elyes [1 ]
Vermeesch, Joris R. [1 ]
Fryns, Jean-Pierre [1 ]
机构：
[1] Univ Leuven, Ctr Human Genet, Louvain, Belgium
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 08期
关键词：
13Q DELETION; HUMAN GENOME; REARRANGEMENT; MUTATIONS; 13Q33-34; GTPASES; REGION;
D O I：
10.1002/ajmg.a.32978
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1834 / 1836
页数：3
相关论文
共 50 条
  • [31] MOLECULAR CHARACTERIZATION OF A FAMILIAL CHROMOSOME 9Q22.2-22.32 DELETION IN A PATIENT WITH CORPUS CALLOSUM AGENESIS AND INTRACTABLE EPILEPSY
    Hiz, S.
    Agilkaya, S.
    Bayram, E.
    Cingoz, S.
    EPILEPSIA, 2014, 55 : 79 - 79
  • [32] ASSIGNMENT OF THE HUMAN GAS6 GENE TO CHROMOSOME 13Q34 BY FLUORESCENCE IN-SITU HYBRIDIZATION
    SACCONE, S
    MARCANDALLI, P
    GOSTISSA, M
    SCHNEIDER, C
    DELLAVALLE, G
    GENOMICS, 1995, 30 (01) : 129 - 131
  • [33] Submicroscopic subtelomeric 22q13 deletion: a recognizable phenotype?
    Jezela-Stanek, A.
    Gutkowska, A.
    Kugaudo, M.
    Gajdulewicz, M.
    Constantinou, M.
    Chrzanowska, K.
    Krajewska-Walasek, M.
    CHROMOSOME RESEARCH, 2009, 17 : 35 - 36
  • [34] A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene
    Zhang, QJ
    Zulfiqar, F
    Riazuddin, SA
    Xiao, XS
    Yasmeen, A
    Rogan, PK
    Caruso, R
    Sieving, PA
    Riazuddin, S
    Hejtmancik, JF
    MOLECULAR VISION, 2005, 11 (117): : 977 - 985
  • [35] Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome
    Reinstein, Eyal
    Liberman, Meytal
    Feingold-Zadok, Michal
    Tenne, Tamar
    Graham, John M., Jr.
    MOLECULAR GENETICS AND METABOLISM, 2016, 118 (01) : 60 - 63
  • [36] CHROMOSOME-13 LONG ARM INTERSTITIAL DELETION ASSOCIATED WITH FEATURES OF NOONAN PHENOTYPE
    ONUFER, CN
    STEPHAN, MJ
    THULINE, HC
    CHAR, F
    ANNALES DE GENETIQUE, 1987, 30 (04): : 236 - 239
  • [37] RETINOBLASTOMA AND RETINOMA OCCURRING IN A CHILD WITH A TRANSLOCATION AND DELETION OF THE LONG ARM OF CHROMOSOME-13
    KEITH, CG
    WEBB, GC
    ARCHIVES OF OPHTHALMOLOGY, 1985, 103 (07) : 941 - 944
  • [38] DELETION OF LONG ARMS OF CHROMOSOME-13
    KUCEROVA, M
    POLIVKOVA, Z
    POKORNA, M
    HUMANGENETIK, 1975, 27 (03): : 255 - 257
  • [39] A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum
    Delcán, J
    Orera, M
    Linares, R
    Saavedra, D
    Palomar, A
    PRENATAL DIAGNOSIS, 2004, 24 (08) : 635 - 637
  • [40] De novo partial duplication of long arm of chromosome 13:: dup(13)(q12→q14)
    Hermann, R
    Soltész, G
    Morava, E
    Kosztolányi, G
    Czakó, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (04): : 296 - 297
12345