Molecular and clinical examination of an Italian DEFECT 11 family
- 22 June 1999
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 7 (5) , 579-584
- https://doi.org/10.1038/sj.ejhg.5200339
Abstract
ud 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 syndromeKeywords
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