Atypical microdeletion in 15q11-q13 re-establishing the regions for Angelman and Prader-Willi syndromes.

被引:0
|
作者
Burger, JJ [1 ]
Wiebe, V [1 ]
Horn, D [1 ]
Tonnies, H [1 ]
Sperling, K [1 ]
Reis, A [1 ]
机构
[1] Humboldt Univ, Charite, Berlin, Germany
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
353
引用
收藏
页码:A67 / A67
页数:1
相关论文
共 50 条
  • [31] 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
  • [32] The Prader-Willi phenotype and atypical 15q11.2-q13 deletions
    Grootjen, Lionne
    Juriaans, Alicia
    Kerkhof, Gerthe
    Hokken-Koelega, Anita
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 295 - 295
  • [33] 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
  • [34] 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
  • [35] TRIMETHYLAMINURIA, PRADER-WILLI SYNDROME, AND DEL(15) (Q11Q13)
    CHEN, H
    AIELLO, F
    PEDIATRIC RESEARCH, 1991, 29 (04) : A128 - A128
  • [36] DELETION OF 15Q11-]Q13 IN A MOTHER AND SON WITHOUT FEATURES OF PRADER-WILLI OR ANGELMAN SYNDROME
    PHELAN, MC
    MICHAELIS, RC
    TARLETON, JC
    DONLON, TA
    SKINNER, SA
    CYTOGENETICS AND CELL GENETICS, 1995, 69 (1-2): : 116 - 116
  • [37] 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
  • [38] DUPLICATION OF CHROMOSOME-15Q IN PRADER-WILLI AND ANGELMAN SYNDROMES - A GENE DOSAGE PARADOX
    MUTIRANGURA, A
    KUWANO, A
    ROBINSON, WP
    GREENBERG, F
    MALCOLM, S
    LEDBETTER, DH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 584 - 584
  • [39] PRADER-WILLI SYNDROME - MOLECULAR DELETION OF DNA PROBES MAPPED TO 15Q11-Q13 IN A CYTOGENETICALLY NORMAL-PATIENT
    TORRES, M
    MUELLER, OT
    PAPENHAUSEN, PR
    KOUSSEFF, BG
    CLINICAL RESEARCH, 1990, 38 (04): : A971 - A971
  • [40] METHODS FOR ISOLATION OF CDNA CLONES FROM LARGE GENOMIC REGIONS - APPLICATIONS TO THE PRADER-WILLI ANGELMAN REGION OF CHROMOSOME-15Q11-Q13
    NAKAO, M
    SUTCLIFFE, JS
    DURTSCHI, BA
    MUTIRANGURA, A
    LEDBETTER, DH
    BEAUDET, AL
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1335 - 1335