Molecular and clinical examination of an Italian DEFECT 11 family

W. Wuyts, G. Di Gennaro, F. Bianco, J. Wauters, C. Morocutti, F. Pierelli, P. Bossuyt, W. Van Hul, C. Casali

Research output: Contribution to journalArticlepeer-review


The DEFECT 11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT 11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT 11 syndrome.

Original languageEnglish
Pages (from-to)579-584
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number5
Publication statusPublished - 1999


  • Brain abnormalities
  • Chromosome 11
  • DEFECT 11
  • Deletion
  • FPP
  • Multiple exostoses

ASJC Scopus subject areas

  • Genetics(clinical)


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