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
  • [41] The common inversion of the Williams-Beuren Syndrome region at 7q11.23 does not cause clinical symptoms
    Tam, Elaine
    Young, Edwin J.
    Morris, Colleen A.
    Marshall, Christian R.
    Loo, Wayne
    Scherer, Stephen W.
    Mervis, Carolyn B.
    Osborne, Lucy R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (14) : 1797 - 1806
  • [42] Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
    Wang, Yunan
    Liu, Chang
    Hu, Rong
    Geng, Juan
    Lu, Jian
    Zhao, Xin
    Xiong, Ying
    Wu, Jing
    Yin, Aihua
    ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [43] Transcriptomic analysis of hiPSC-derived neurons from patients with Williams Beuren Syndrome and 7q11.23 microduplication syndrome
    Ugartondo, Nerea
    Martin-Mur, Beatriz
    Santamaria Canas, Mario
    Blasco-Fornies, Helena
    Esteve Codina, Anna
    Corominas, Roser
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 502 - 502
  • [44] Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
    Osborne, LR
    Martindale, D
    Scherer, SW
    Shi, XM
    Huizenga, J
    Heng, HHQ
    Costa, T
    Pober, B
    Lew, L
    Brinkman, J
    Rommens, J
    Koop, B
    Tsui, LC
    GENOMICS, 1996, 36 (02) : 328 - 336
  • [45] Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23
    Antonell, A
    de Luis, O
    Domingo-Roura, X
    Pérez-Jurado, LA
    GENOME RESEARCH, 2005, 15 (09) : 1179 - 1188
  • [46] 7q11.23 Microduplication: a recognizable phenotype
    Dixit, A.
    McKee, S.
    Mansour, S.
    Mehta, S. G.
    Tanteles, G. A.
    Anastasiadou, V.
    Patsalis, P. C.
    Martin, K.
    McCullough, S.
    Suri, M.
    Sarkar, A.
    CLINICAL GENETICS, 2013, 83 (02) : 155 - 161
  • [47] Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23
    Muramatsu, Yukako
    Tokita, Yoshihito
    Mizuno, Seiji
    Nakamura, Miho
    BRAIN & DEVELOPMENT, 2017, 39 (02): : 145 - 153
  • [48] Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
    Cusco, Ivon
    Corominas, Roser
    Bayes, Monica
    Flores, Raquel
    Rivera-Brugues, Nuria
    Campuzano, Victoria
    Perez-Jurado, Luis A.
    GENOME RESEARCH, 2008, 18 (05) : 683 - 694
  • [49] Copy Number Variation of the 7q11.23 Williams Syndrome Chromosomal Region Affects Brain Gyrification and Skull Shape
    Gregory, Michael D.
    Kippenhan, J. Shane
    Nash, Tiffany
    Prabhakaran, Ranjani
    Eisenberg, Daniel
    Yankowitz, Lisa
    Insel, Crystal
    Roe, Katherine
    Sottile, Melanie
    Kohn, Philip
    Mervis, Carolyn
    Berman, Karen
    NEUROPSYCHOPHARMACOLOGY, 2015, 40 : S460 - S461
  • [50] A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
    Delgado, L. M.
    Gutierrez, M.
    Augello, B.
    Fusco, C.
    Micale, L.
    Merla, G.
    Pastene, E. A.
    MOLECULAR SYNDROMOLOGY, 2013, 4 (03) : 143 - 147