Paternal triplication of 15q11-q13 in a hypotonic, developmentally delayed child without Prader-Willi or angelman syndrome

被引：0
|
作者：
Cassidy, SB [1 ]
Conroy, J [1 ]
Becker, L [1 ]
Schwartz, S [1 ]
机构：
[1] CASE WESTERN RESERVE UNIV,SCH MED,DEPT GENET,CLEVELAND,OH 44106
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 62卷 / 03期
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：4 / 4
页数：2
相关论文
共 50 条
  • [21] Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report
    Jinying Wu
    Meifang Lei
    Xuetao Wang
    Nan Liu
    Xiaowei Xu
    Chunyu Gu
    Yuping Yu
    Wei Liu
    Italian Journal of Pediatrics, 48
  • [22] A COMPLETE YAC CONTIG OF THE PRADER-WILLI/ANGELMAN CHROMOSOME REGION (15Q11-Q13) AND REFINED LOCALIZATION OF THE SNRPN GENE
    MUTIRANGURA, A
    JAYAKUMAR, A
    SUTCLIFFE, JS
    NAKAO, M
    MCKINNEY, MJ
    BUITING, K
    HORSTHEMKE, B
    BEAUDET, AL
    CHINAULT, AC
    LEDBETTER, DH
    GENOMICS, 1993, 18 (03) : 546 - 552
  • [23] Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
    Alliende, A
    Curotto, B
    Santa Maria, L
    Cortés, F
    Aracena, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 113 (03): : 307 - 308
  • [24] PARENTAL ORIGIN OF DEL(15)(Q11-Q13) IN ANGELMAN AND PRADER-WILLI SYNDROMES
    ZORI, R
    WILLIAMS, C
    MATTEI, JF
    MONCLA, A
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (02): : 294 - 295
  • [25] PRADER-WILLI OR ANGELMAN SYNDROME IN FAMILIAL 15Q11-]Q13 DELETION OF MATERNAL ORIGIN
    SCHINZEL, A
    ROBINSON, WP
    BOTTANI, A
    XIE, YG
    PRADER, A
    HUMAN GENETICS, 1992, 88 (03) : 361 - 362
  • [26] Correction: Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report
    Jinying Wu
    Meifang Lei
    Xuetao Wang
    Nan Liu
    Xiaowei Xu
    Chunyu Gu
    Yuping Yu
    Wei Liu
    Italian Journal of Pediatrics, 49
  • [27] Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion
    Kurtul
    Boduroglu, K.
    Alanay, Y.
    Utine, E.
    Salanci, B. Volkan
    Aktas, D.
    Alikasifoglu, M.
    Tuncbilek, E.
    CHROMOSOME RESEARCH, 2007, 15 : 96 - 96
  • [28] TRIMETHYLAMINURIA, PRADER-WILLI SYNDROME, AND DEL(15) (Q11Q13)
    CHEN, H
    AIELLO, F
    PEDIATRIC RESEARCH, 1991, 29 (04) : A128 - A128
  • [29] INTRACHROMOSOMAL TRIPLICATION OF 15Q11-Q13
    SCHINZEL, AA
    BRECEVIC, L
    BERNASCONI, F
    BINKERT, F
    BERTHET, F
    WUILLOUD, A
    ROBINSON, WP
    JOURNAL OF MEDICAL GENETICS, 1994, 31 (10) : 798 - 803
  • [30] Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
    Carrozzo, R
    Rossi, E
    Christian, SL
    Kittikamron, K
    Livieri, C
    Corrias, A
    Pucci, L
    Fois, A
    Simi, P
    Bosio, L
    Beccaria, L
    Zuffardi, O
    Ledbetter, DH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) : 228 - 231
12345