Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Alberto Plaja, Elisabet Lloveras, Cristina Martinez-Bouzas, Beatriz Barreña, Miguel Del Campo, Asunción Fernández, Marta Herrero, Laura Barranco, Nuria Palau, M. Asunción López-Aríztegui, Vicenç Català, Maria Isabel Tejada

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    Resum

    We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. © 2013 Wiley Periodicals, Inc.
    Idioma originalEnglish
    Pàgines (de-a)2363-2368
    RevistaAmerican Journal of Medical Genetics, Part A
    Volum161
    Número9
    DOIs
    Estat de la publicacióPublicada - 1 de set. 2013

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