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 journalArticle

Abstract

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
Volume46
Issue number1
DOIs
Publication statusPublished - Jan 2003

Keywords

  • 7q duplication
  • Chromosome tandem duplications

ASJC Scopus subject areas

  • Genetics

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