Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

Authors

  • Ascensión Vera-Carbonell,

    Corresponding author
    1. Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. “Virgen de la Arrixaca”, El Palmar, Murcia, Spain
    • Centro de Bioquímica y Genética Clínica, Hospital U. “Virgen de la Arrixaca”, El Palmar, 30120 Murcia, Spain.
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  • Juan Antonio Bafalliu,

    1. Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. “Virgen de la Arrixaca”, El Palmar, Murcia, Spain
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  • Encarna Guillén-Navarro,

    1. Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital U. “Virgen de la Arrixaca”, El Palmar, Murcia, Spain
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  • Ariadna Escalona,

    1. Unitat de Biologia Cellular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Barcelona E-08193, Spain
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  • María J. Ballesta-Martínez,

    1. Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital U. “Virgen de la Arrixaca”, El Palmar, Murcia, Spain
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  • Carme Fuster,

    1. Unitat de Biologia Cellular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Barcelona E-08193, Spain
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  • Asunción Fernández,

    1. Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. “Virgen de la Arrixaca”, El Palmar, Murcia, Spain
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  • Isabel López-Expósito

    1. Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital U. “Virgen de la Arrixaca”, El Palmar, Murcia, Spain
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  • How to cite this article: Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I. 2009. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. Am J Med Genet Part A 149A:2513–2521.

Abstract

Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc.

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