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

    Research output: Contribution to journalArticleResearchpeer-review

    6 Citations (Scopus)

    Abstract

    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.
    Original languageEnglish
    Pages (from-to)2363-2368
    JournalAmerican Journal of Medical Genetics, Part A
    Volume161
    Issue number9
    DOIs
    Publication statusPublished - 1 Sep 2013

    Keywords

    • 18p trisomy
    • Cytogenetics
    • Intellectual disability
    • Recurring chromosome abnormality
    • Small marker chromosome
    • SSMC

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