SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain

Abstract : Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed.
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European Journal of Medical Genetics, Elsevier, 2014, 57 (4), pp.174-80. 〈10.1016/j.ejmg.2013.12.013〉
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Soumis le : lundi 26 mai 2014 - 11:29:37
Dernière modification le : jeudi 11 janvier 2018 - 06:23:14
Document(s) archivé(s) le : mardi 26 août 2014 - 10:57:09

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Audrey Briand-Suleau, Jelena Martinovic, Lucie Tosca, Bassim Tou, Sophie Brisset, et al.. SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain. European Journal of Medical Genetics, Elsevier, 2014, 57 (4), pp.174-80. 〈10.1016/j.ejmg.2013.12.013〉. 〈inserm-00996152〉

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