Molecular and clinical examination of an Italian DEFECT11 family

Eur J Hum Genet. 1999 Jul;7(5):579-84. doi: 10.1038/sj.ejhg.5200339.


The DEFECT11 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 DEFECT11 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 DEFECT11 syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Central Nervous System / abnormalities*
  • Central Nervous System / diagnostic imaging
  • Chromosomes, Human, Pair 11*
  • Exostoses, Multiple Hereditary / diagnostic imaging
  • Exostoses, Multiple Hereditary / genetics*
  • Female
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Parietal Bone / abnormalities*
  • Parietal Bone / diagnostic imaging
  • Pedigree
  • Radiography
  • Sequence Deletion
  • Syndrome