Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

Authors

  • Milena Simioni,

    1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil
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  • Társis Paiva Vieira,

    1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil
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  • Ilária Cristina Sgardioli,

    1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil
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  • Érika Lopes Freitas,

    1. Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil
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  • Carla Rosenberg,

    1. Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil
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  • Cláudia Vianna Maurer-Morelli,

    1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil
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  • Iscia Lopes-Cendes,

    1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil
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  • Agnes Cristina Fett-Conte,

    1. Molecular Biology Department, Medicine School in São José do Rio Preto, São José do Rio Preto, SP, Brazil
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  • Vera Lúcia Gil-da-Silva-Lopes

    Corresponding author
    1. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil
    • Department of Medical Genetics, University of Campinas, SP, Brazil; Tessália Vieira de Camargo Street, 126 – CEP 13083-887–Campinas, SP, Brazil.
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  • How to Cite this Article: Simioni M, Vieira TP, Sgardioli IC, Freitas ÉL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL. 2012. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. Am J Med Genet Part A 158A: 2905–2910.

Abstract

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed. © 2012 Wiley Periodicals, Inc.

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