A novel genomic rearrangement of 7q11.23 in multiple unrelated families with Williams-Beuren syndrome.

被引:0
|
作者
Osborne, L
Haddad, M
Schachow, M
Li, M
Skaug, J
Lokkesmoe, R
Gripp, KW
Thompson, E
Perez-Jurado, L
Scherer, SW
机构
[1] Univ Toronto, Toronto, ON, Canada
[2] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[3] Kingston Gen Hosp, Kingston, ON K7L 2V7, Canada
[4] Womens & Childrens Hosp, Clin Genet Serv, N Adelaide, SA, Australia
[5] DuPont Hosp Children, Wilmington, DE USA
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
631
引用
收藏
页码:277 / 277
页数:1
相关论文
共 50 条
  • [1] Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
    Dutra, Roberta Lelis
    Pieri, Patricia de Campos
    Dias Teixeira, Ana Carolina
    Honjo, Rachel Sayuri
    Bertola, Debora Romeo
    Kim, Chong Ae
    CLINICS, 2011, 66 (06) : 959 - 964
  • [2] Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]
    Koehler, Udo
    Pabst, Brigitte
    Pober, Barbara
    Kozel, Beth
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (09) : E1 - E3
  • [3] Copy number variants at Williams-Beuren syndrome 7q11.23 region
    Merla, Giuseppe
    Brunetti-Pierri, Nicola
    Micale, Lucia
    Fusco, Carmela
    HUMAN GENETICS, 2010, 128 (01) : 3 - 26
  • [4] Williams-Beuren syndrome: 7q11.23 deletions and phenotypic variability in 50 cases
    Criado, B
    Fernandes, R
    Lima, MR
    Mota, CR
    Fortuna, A
    Saraiva, J
    Castedo, S
    CYTOGENETICS AND CELL GENETICS, 1999, 85 (1-2): : 145 - 145
  • [5] An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
    Ferrero, Giovanni Battista
    Howald, Cedric
    Micale, Lucia
    Biamino, Elisa
    Augello, Bartolomeo
    Fusco, Carmela
    Turturo, Maria Giuseppina
    Forzano, Serena
    Reymond, Alexandre
    Merla, Giuseppe
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (01) : 33 - 38
  • [6] 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
  • [7] 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
  • [8] 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
  • [9] 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
  • [10] Clinical utility gene card for: Williams–Beuren Syndrome [7q11.23]
    Udo Koehler
    Brigitte Pabst
    Barbara Pober
    Beth Kozel
    European Journal of Human Genetics, 2014, 22 : 1153 - 1153