Array-CGH Analysis of a Cohort of 86 Patients With Oculoauriculovertebral Spectrum

被引：50
|
作者：
Rooryck, Caroline [1 ,2 ]
Souakri, Noui [1 ]
Cailley, Dorothee [2 ]
Bouron, Julie [2 ]
Goizet, Cyril [1 ,2 ]
Delrue, Marie-Ange [2 ]
Marlin, Sandrine [3 ]
Lacombe, Feclad Didier [1 ,2 ]
Arveiler, Benoit [1 ,2 ]
机构：
[1] Univ Bordeaux 2, Lab Genet Humaine, EA4137, F-33076 Bordeaux, France
[2] CHU Bordeaux, Serv Genet Med, Bordeaux, France
[3] Hop Trousseau, APHP, Serv Genet Med, F-75571 Paris, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 08期
关键词：
oculoauriculovertebral spectrum; OAVS; array-CGH; Goldenhar syndrome; AURICULO-VERTEBRAL SPECTRUM; GOLDENHAR-SYNDROME; HEMIFACIAL MICROSOMIA; MENTAL-RETARDATION; 22Q11.2; DELETION; HEART-DEFECTS; SEQUENCE; FEATURES; MALFORMATIONS; GENE;
D O I：
10.1002/ajmg.a.33491
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS. (C) 2010 Wiley-Liss, Inc.
引用
下载
收藏
页码：1984 / 1989
页数：6
相关论文
共 50 条
  • [41] Diagnostic array-CGH and exome sequencing in a cohort of patients with neurodevelopmental disorders: genetic heterogeneity and phenotypic variability
    Pelle, A.
    Mandrile, G.
    Di Gregorio, E.
    Dentelli, P.
    Giorgio, E.
    Pavinato, L.
    Tartaglia, M.
    Brusselles, A.
    Pippucci, T.
    Dimartino, P.
    De Rubeis, S.
    Ferrero, G. B.
    Brusco, A.
    Giachino, D. F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 354 - 355
  • [42] Array CGH analysis of a cohort of Russian patients with intellectual disability
    Kashevarova, Anna A.
    Nazarenko, Lyudmila P.
    Skryabin, Nikolay A.
    Salyukova, Olga A.
    Chechetkina, Nataliya N.
    Tolmacheva, Ekaterina N.
    Sazhenova, Elena A.
    Magini, Pamela
    Graziano, Claudio
    Romeo, Giovanni
    Kucinskas, Vaidutis
    Lebedev, Igor N.
    GENE, 2014, 536 (01) : 145 - 150
  • [43] Array-CGH: Possible new cytogenetic alteration
    Del Aguila Garcia, M. D. M.
    Garcia Chileme, S.
    Molina Zayas, M.
    De Haro Romero, T.
    Aguilar Castillo, M. J.
    Garcia Rabaneda, C.
    De Haro MuNoz, T.
    CLINICA CHIMICA ACTA, 2019, 493 : S565 - S565
  • [44] Segmental aneuploidies in patients with epilepsy of unknown etiology detected by array-CGH
    Swinkels, M.
    van Hoek-Terluin, J.
    ten Berg, K.
    Beemer, F.
    Brilstra, E.
    Eleveld, M.
    van der Wijst, S.
    Lindhout, D.
    Hochstenbach, R.
    Poot, M.
    van Nieuwenhuizen, O.
    EPILEPSIA, 2006, 47 : 88 - 88
  • [45] A Bayes regression approach to array-CGH data
    Wen, Chi-Chung
    Wu, Yuh-Jenn
    Huang, Yung-Hsiang
    Chen, Wei-Chen
    Liu, Shu-Chen
    Jiang, Shih Sheng
    Juang, Jyh-Lyh
    Lin, Chung-Yen
    Fang, Wen-Tsen
    Hsiung, Chao Agnes
    Chang, I-Shou
    STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY, 2006, 5
  • [46] Array-CGH as a method for detection of monogenic disorders
    Anderlid, B.
    Grigelioniene, G.
    Schoumans, J.
    Kvarnung, M.
    Ann, N.
    CHROMOSOME RESEARCH, 2009, 17 : 187 - 187
  • [47] Analysis of Array-CGH Data Using the R and Bioconductor Software Suite
    Hofmann, Winfried A.
    Weigmann, Anja
    Tauscher, Marcel
    Skawran, Britta
    Focken, Tim
    Buurman, Reena
    Wingen, Luzie U.
    Schlegelberger, Brigitte
    Steinemann, Doris
    COMPARATIVE AND FUNCTIONAL GENOMICS, 2009,
  • [48] Local pattern discovery in array-CGH data
    Rouveirol, C
    Radvanyi, R
    LOCAL PATTERN DETECTION, 2005, 3539 : 135 - 152
  • [49] VAMP:: Visualization and analysis of array-CGH, transcriptome and other molecular profiles
    La Rosa, Philippe
    Viara, Eric
    Hupe, Philippe
    Pierron, Gaelle
    Liva, Stephane
    Neuvial, Pierre
    Brito, Isabel
    Lair, Severine
    Servant, Nicolas
    Robine, Nicolas
    Manie, Elodie
    Brennetot, Caroline
    Janoueix-Lerosey, Isabelle
    Raynal, Virginie
    Gruel, Nadege
    Rouveirol, Celine
    Stransky, Nicolas
    Stern, Marc-Henri
    Delattre, Olivier
    Aurias, Alain
    Radvanyi, Francois
    Barillot, Emmanuel
    BIOINFORMATICS, 2006, 22 (17) : 2066 - 2073
  • [50] Array-CGH cohort of 1500 patients with Neurodevelopmental Disorders: Copy Number Variation in 16p13.11
    Val, M.
    Carreira, I. M.
    Pires, L. M.
    Ribeiro, J.
    Lavoura, N.
    Ferreira, S. I.
    Venancio, M.
    Ramos, F.
    Melo, J. B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 211 - 211
12345