A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.

Siavriene, Evelina; Preiksaitiene, Egle; Maldziene, Zivile; Mikstiene, Violeta; Rancelis, Tautvydas; Ambrozaityte, Laima; Gueneau, Lucie; Reymond, Alexandre; Kucinskas, Vaidutis

A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.

Siavriene, Evelina; Preiksaitiene, Egle; Maldziene, Zivile; Mikstiene, Violeta; Rancelis, Tautvydas; Ambrozaityte, Laima; Gueneau, Lucie; Reymond, Alexandre; Kucinskas, Vaidutis.

Afiliação

Siavriene E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. Electronic address: evelina.siavriene@mf.vu.lt.
Preiksaitiene E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Maldziene Z; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Mikstiene V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Rancelis T; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Ambrozaityte L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Gueneau L; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Kucinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Gene ; 753: 144816, 2020 Aug 30.

Article em En | MEDLINE | ID: mdl-32473250

Assuntos

Transtornos Cromossômicos/genética; Pálpebras/anormalidades; Deficiência Intelectual/genética; Deformidades Congênitas dos Membros/genética; MicroRNAs/genética; Microcefalia/genética; Fístula Traqueoesofágica/genética; Adolescente; Deleção Cromossômica; Cromossomos Humanos Par 13/genética; Hibridização Genômica Comparativa/métodos; Deficiências do Desenvolvimento/genética; Nanismo/genética; Feminino; Duplicação Gênica/genética; Glipicanas/genética; Glipicanas/metabolismo; Humanos; Fenótipo

Palavras-chave

13q31.3 microduplication; Feingold syndrome 2; GPC5; MIR17HG; miR-17 ~ 92 cluster; qPCR

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fístula Traqueoesofágica / Deformidades Congênitas dos Membros / Transtornos Cromossômicos / MicroRNAs / Pálpebras / Deficiência Intelectual / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Gene Ano de publicação: 2020 Tipo de documento: Article

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