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
  • [41] TRIMETHYLAMINURIA IN A GIRL WITH PRADER-WILLI SYNDROME AND DEL(15)(Q11Q13)
    CHEN, H
    AIELLO, F
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03): : 335 - 339
  • [42] A PUTATIVE GENE FAMILY IN 15Q11-13 AND 16P11.2 - POSSIBLE IMPLICATIONS FOR PRADER-WILLI AND ANGELMAN SYNDROMES
    BUITING, K
    GREGER, V
    BROWNSTEIN, BH
    MOHR, RM
    VOICULESCU, I
    WINTERPACHT, A
    ZABEL, B
    HORSTHEMKE, B
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (12) : 5457 - 5461
  • [43] MOLECULAR DIAGNOSIS OF THE PRADER-WILLI AND ANGELMAN SYNDROMES BY DETECTION OF PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION IN 15Q11-13
    DITTRICH, B
    ROBINSON, WP
    KNOBLAUCH, H
    BUITING, K
    SCHMIDT, K
    GILLESSENKAESBACH, G
    HORSTHEMKE, B
    HUMAN GENETICS, 1992, 90 (03) : 313 - 315
  • [44] PHYSICAL MAPPING STUDIES AT D15S10 - IMPLICATIONS FOR CANDIDATE GENE IDENTIFICATION IN THE ANGELMAN SYNDROME/PRADER-WILLI SYNDROME CHROMOSOME REGION OF 15Q11-Q13
    WOODAGE, T
    LINDEMAN, R
    DENG, ZM
    FIMMEL, A
    SMITH, A
    TRENT, RJ
    GENOMICS, 1994, 19 (01) : 170 - 172
  • [45] PHYSICAL MAPPING AND ISOLATION OF EXPRESSED SEQUENCES IN THE PRADER-WILLI ANGELMAN CRITICAL REGION OF CHROMOSOME 15Q11-]Q13
    SUTCLIFFE, JS
    NAKAO, M
    MUTIRANGURA, A
    CHRISTIAN, S
    LEDBETTER, DH
    BEAUDET, AL
    CYTOGENETICS AND CELL GENETICS, 1994, 67 (01): : 19 - 19
  • [46] Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11-q13
    Lee, MJ
    Nishio, H
    Nagai, T
    Okamoto, N
    Yuki, T
    Sumino, K
    CLINICA CHIMICA ACTA, 1998, 271 (01) : 89 - 96
  • [47] Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report (vol 48, 204, 2022)
    Wu, Jinying
    Lei, Meifang
    Wang, Xuetao
    Liu, Nan
    Xu, Xiaowei
    Gu, Chunyu
    Yu, Yuping
    Liu, Wei
    ITALIAN JOURNAL OF PEDIATRICS, 2023, 49 (01)
  • [48] De Novo Interstitial Duplication of 15q11.2-q13.1 With Complex Maternal Uniparental Trisomy for the 15q11-q13 Region in a Patient with Prader-Willi Syndrome
    Burrage, Lindsay C.
    Person, Richard E.
    Flores, Angela
    Villanos, Maria Theresa M.
    Bi, Weimin
    Wiszniewska, Joanna
    Bacino, Carlos A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (10) : 2557 - 2563
  • [49] COMPARISON OF THE 15Q DELETIONS IN PRADER-WILLI AND ANGELMAN SYNDROMES - SPECIFIC REGIONS, EXTENT OF DELETIONS, PARENTAL ORIGIN, AND CLINICAL CONSEQUENCES
    MAGENIS, RE
    TOTHFEJEL, S
    ALLEN, LJ
    BLACK, M
    BROWN, MG
    BUDDEN, S
    COHEN, R
    FRIEDMAN, JM
    KALOUSEK, D
    ZONANA, J
    LACY, D
    LAFRANCHI, S
    LAHR, M
    MACFARLANE, J
    WILLIAMS, CPS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (03): : 333 - 349
  • [50] SIMILAR MOLECULAR DELETIONS ON CHROMOSOME 15Q11.2 ARE ENCOUNTERED IN BOTH THE PRADER-WILLI AND ANGELMAN SYNDROMES
    DONLON, TA
    HUMAN GENETICS, 1988, 80 (04) : 322 - 328