Interstitial "de novo" tandem duplication of 7(q31.1-q35): First reported case

L. Zelante, A. I. Croce, A. Grifa, A. Notarangelo, S. Calvano

Research output: Contribution to journalArticlepeer-review


A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation. The clinical findings of the dup7q published cases are compared in order to define a possible common phenotype.

Original languageEnglish
Pages (from-to)49-52
Number of pages4
JournalAnnales de Genetique
Issue number1
Publication statusPublished - Jan 2003


  • 7q duplication
  • Chromosome tandem duplications

ASJC Scopus subject areas

  • Genetics


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