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

Ascensión Vera-Carbonell, Juan Antonio Bafalliu, Encarna Guillén-Navarro, Ariadna Escalona, María J. Ballesta-Martínez, Carme Fuster, Asunción Fernández, Isabel López-Expósito

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10 Citations (Scopus)

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 3months 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.
Original languageEnglish
Pages (from-to)2513-2521
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number11
DOIs
Publication statusPublished - 1 Nov 2009

Keywords

  • Array -CGH analysis
  • Cri-du-chat syndrome
  • Deletion inverted duplication 5p
  • FISH analysis
  • Trisomy 5p syndrome

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