Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32→qter

被引:0
|
作者
Talvik, I
Ounap, K
Bartsch, O
Ilus, T
Uibo, O
Talvik, T
机构
[1] Univ Tartu, Dept Pediat, EE-51014 Tartu, Estonia
[2] Univ Tartu, Clinicum, Ctr Med Genet, EE-51014 Tartu, Estonia
[3] Tech Univ Dresden, Inst Clin Genet, D-8027 Dresden, Germany
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2000年 / 93卷 / 05期
关键词
ring chromosome 13; celiac disease;
D O I
10.1002/1096-8628(20000828)93:5<399::AID-AJMG10>3.0.CO;2-Q
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe a 21/2-year-old boy with a ring chromosome 13 with distal deletion of 13q32-->qter and celiac disease. (C) 2000 Wiley-Liss, Inc.
引用
收藏
页码:399 / 402
页数:4
相关论文
共 50 条
  • [41] PARTIAL TRISOMY-13Q21-]QTER DENOVO DUE TO A RECOMBINANT CHROMOSOME REC(13)DUP-Q
    HABEDANK, M
    HUMAN GENETICS, 1979, 52 (01) : 91 - 99
  • [42] Perinatal findings of partial trisomy 13q (13q14.1→qter) resulting from paternal pericentric inversion of chromosome 13
    Chen, CP
    Lin, SP
    Lee, CC
    Chen, WL
    Chen, LF
    Wang, WS
    PRENATAL DIAGNOSIS, 2005, 25 (06) : 527 - 528
  • [43] CHROMOSOME 11Q23.3-QTER DELETION AND ALEXANDER DISEASE - RESPONSE
    WARDINSKY, TD
    PAGON, RA
    WEINBERGER, E
    CLARREN, SK
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 39 (02): : 227 - 227
  • [44] Fine mapping of a schizophrenia susceptibility locus on 13q32 in a Canadian Sample.
    Waterworth, DM
    Chow, EWC
    Bassett, AS
    Brzustowicz, LM
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 442 - 442
  • [45] Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21
    Jean-Louis Blouin
    Beth A. Dombroski
    Swapan K. Nath
    Virginia K. Lasseter
    Paula S. Wolyniec
    Gerald Nestadt
    Mary Thornquist
    Gail Ullrich
    John McGrath
    Laura Kasch
    Malgorzata Lamacz
    Marion G. Thomas
    Corinne Gehrig
    Uppala Radhakrishna
    Sarah E. Snyder
    Katherine G. Balk
    Karin Neufeld
    Karen L. Swartz
    Nicola DeMarchi
    George N. Papadimitriou
    Dimitris G. Dikeos
    Costas N. Stefanis
    Aravinda Chakravarti
    Barton Childs
    David E. Housman
    Haig H. Kazazian
    Stylianos E. Antonarakis
    Ann E. Pulver
    Nature Genetics, 1998, 20 : 70 - 73
  • [46] Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21
    Blouin, JL
    Dombroski, BA
    Nath, SK
    Lasseter, VK
    Wolyniec, PS
    Nestadt, G
    Thornquist, M
    Ullrich, G
    McGrath, J
    Kasch, L
    Lamacz, M
    Thomas, MG
    Gehrig, C
    Radhakrishna, U
    Snyder, SE
    Balk, KG
    Neufeld, K
    Swartz, KL
    DeMarchi, N
    Papadimitriou, GN
    Dikeos, DG
    Stefanis, CN
    Chakravarti, A
    Childs, B
    Housman, DE
    Kazazian, HH
    Antonarakis, SE
    Pulver, AE
    NATURE GENETICS, 1998, 20 (01) : 70 - 73
  • [47] INTERSTITIAL DELETION OF CHROMOSOME-13 INVOLVING THE REGION-13Q14
    PANKAU, R
    JOHANNSON, W
    GROTE, W
    DORNER, K
    TOLKSDORF, M
    HUMAN GENETICS, 1987, 77 (03) : 292 - 293
  • [48] REGIONAL ASSIGNMENT OF ESTERASE-D LOCUS TO HUMAN-CHROMOSOME 13Q13-]QTER
    OISHI, H
    NISHIGAKI, I
    FUTAMURA, M
    TAKEBE, H
    CYTOGENETICS AND CELL GENETICS, 1984, 37 (1-4): : 558 - 559
  • [50] Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
    Wilson, GA
    Devaux, A
    Aroichane, M
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2004, 32 (01): : 101 - 103