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.
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Wuyts, W., Gennaro, G., Bianco, F. et al. Molecular and clinical examination of an Italian DEFECT 11 family. Eur J Hum Genet 7, 579–584 (1999). https://doi.org/10.1038/sj.ejhg.5200339
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DOI: https://doi.org/10.1038/sj.ejhg.5200339
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