Abstract
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 language | English |
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Pages (from-to) | 579-584 |
Number of pages | 6 |
Journal | European Journal of Human Genetics |
Volume | 7 |
Issue number | 5 |
DOIs | |
Publication status | Published - 1999 |
Keywords
- Brain abnormalities
- Chromosome 11
- DEFECT 11
- Deletion
- FPP
- Multiple exostoses
ASJC Scopus subject areas
- Genetics(clinical)