Another patient with 12q13 microduplication

M. Bertoli, V. Alesi, F. Gullotta, S. Zampatti, M. R. Abate, C. Palmieri, A. Novelli, M. Frontali, A. M. Nardone

Research output: Contribution to journalArticlepeer-review


Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only one case report of homogeneous, non-mosaic interstitial 12q13 duplication has been documented to date. The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf-Hirschhorn syndrome [Dallapiccola et al., 2009]. Only a few other recorded patients with deletion 12q13→12q21 involved mosaicism. We describe a new patient with homogeneous 12q13 duplication in a 6-year-old girl who, in early infancy, presented with dysmorphic features suggesting Wolf-Hirschhorn syndrome. What is potentially significant about this patient is that her facial phenotype evolved with age, suggesting a different gestalt in older patients.

Original languageEnglish
Pages (from-to)2004-2008
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
Publication statusPublished - Aug 2013


  • 12q13 duplication
  • Hyperkeratosis
  • Intellectual disability
  • Wolf-Hirschhorn syndrome phenocopy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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