7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover

被引:2
|
作者
Urban, Z
Helms, C
Fekete, G
Csiszar, K
Bonnet, D
Munnich, A
DonisKeller, H
Boyd, CD
机构
[1] UNIV MED & DENT NEW JERSEY,ROBERT WOOD JOHNSON MED SCH,DEPT SURG,NEW BRUNSWICK,NJ 08903
[2] WASHINGTON UNIV,SCH MED,DEPT SURG,ST LOUIS,MO
[3] SEMMELWEIS UNIV MED,DEPT PEDIAT 2,H-1085 BUDAPEST,HUNGARY
[4] HOP NECKER ENFANTS MALAD,IFREM,INST NECKER,PARIS,FRANCE
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:958 / 962
页数:5
相关论文
共 50 条
  • [31] Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome
    Wang, Fengyang
    Peng, Huijuan
    Lou, Guiyu
    Ren, Yanxin
    Liao, Shixiu
    PRENATAL DIAGNOSIS, 2024, 44 (11) : 1398 - 1411
  • [32] Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
    Mulle, Jennifer Gladys
    Pulver, Ann E.
    McGrath, John A.
    Wolyniec, Paula S.
    Dodd, Anne F.
    Cutler, David J.
    Sebat, Jonathan
    Malhotra, Dheeraj
    Nestadt, Gerald
    Conrad, Donald F.
    Hurles, Matthew
    Barnes, Chris P.
    Ikeda, Masashi
    Iwata, Nakao
    Levinson, Douglas F.
    Gejman, Pablo V.
    Sanders, Alan R.
    Duan, Jubao
    Mitchell, Adele A.
    Peter, Inga
    Sklar, Pamela
    O'Dushlaine, Colm T.
    Grozeva, Detelina
    O'Donovan, Michael C.
    Owen, Michael J.
    Hultman, Christina M.
    Kahler, Anna K.
    Sullivan, Patrick F.
    Kirov, George
    Warren, Stephen T.
    BIOLOGICAL PSYCHIATRY, 2014, 75 (05) : 371 - 377
  • [33] 7q11.23 deletion and duplication
    Osborne, Lucy R.
    Mervis, Carolyn B.
    CURRENT OPINION IN GENETICS & DEVELOPMENT, 2021, 68 : 41 - 48
  • [34] 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
    Dentici, Maria Lisa
    Bergonzini, Paola
    Scibelli, Francesco
    Caciolo, Cristina
    De Rose, Paola
    Cumbo, Francesca
    Alesi, Viola
    Capolino, Rossella
    Zanni, Ginevra
    Sinibaldi, Lorenzo
    Novelli, Antonio
    Tartaglia, Marco
    Digilio, Maria Cristina
    Dallapiccola, Bruno
    Vicari, Stefano
    Alfieri, Paolo
    BRAIN SCIENCES, 2020, 10 (11) : 1 - 19
  • [35] A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome
    Gregory, Michael D.
    Kolachana, Bhaskar
    Yao, Yin
    Nash, Tiffany
    Dickinson, Dwight
    Eisenberg, Daniel P.
    Mervis, Carolyn B.
    Berman, Karen F.
    BMC MEDICAL GENETICS, 2018, 19
  • [36] MULTIMODAL NEUROIMAGING OF BRAIN STRUCTURE AND FUNCTION IN PEOPLE WITH RECIPROCAL COPY NUMBER VARIATIONS AT CHROMOSOMAL LOCUS 7Q11.23-WILLIAMS SYNDROME AND 7Q11.23 DUPLICATION SYNDROME
    Garvey, Madeline
    Nash, Tiffany
    Kippenhan, J. Shane
    Kohn, Philip
    Mervis, Carolyn
    Eisenberg, Daniel
    Kelemen, Anna
    Chavannes, Ariana
    Gregory, Michael
    Berman, Karen
    NEUROPSYCHOPHARMACOLOGY, 2024, 49 : 358 - 359
  • [37] A novel genomic rearrangement of 7q11.23 in multiple unrelated families with Williams-Beuren syndrome.
    Osborne, L
    Haddad, M
    Schachow, M
    Li, M
    Skaug, J
    Lokkesmoe, R
    Gripp, KW
    Thompson, E
    Perez-Jurado, L
    Scherer, SW
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 277 - 277
  • [38] The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature
    Abbas, Elham
    Cox, Devin M.
    Smith, Teri
    Butler, Merlin G.
    JOURNAL OF PEDIATRIC GENETICS, 2016, 5 (03) : 129 - 140
  • [39] Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
    Yunan Wang
    Chang Liu
    Rong Hu
    Juan Geng
    Jian Lu
    Xin Zhao
    Ying Xiong
    Jing Wu
    Aihua Yin
    Orphanet Journal of Rare Diseases, 18
  • [40] 7q11.23 Duplication Syndrome: Physical Characteristics and Natural History
    Morris, Colleen A.
    Mervis, Carolyn B.
    Paciorkowski, Alex P.
    Abdul-Rahman, Omar
    Dugan, Sarah L.
    Rope, Alan F.
    Bader, Patricia
    Hendon, Laura G.
    Velleman, Shelley L.
    Klein-Tasman, Bonita P.
    Osborne, Lucy R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (12) : 2916 - 2935