Abstract 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.
Molecular and clinical examination of an italian DEFECT 11 family / Wuits, W.; DI GENNARO, G.; Bianco, Federico; Wauters, J.; Morocutti, Cristoforo; Pierelli, Francesco; Bossuyt, P.; VAN HUL, W.; Casali, Carlo. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 7:5(1999), pp. 579-584. [10.1038/sj.ejhg.5200339]
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Titolo: | Molecular and clinical examination of an italian DEFECT 11 family. | |
Autori: | ||
Data di pubblicazione: | 1999 | |
Rivista: | ||
Citazione: | Molecular and clinical examination of an italian DEFECT 11 family / Wuits, W.; DI GENNARO, G.; Bianco, Federico; Wauters, J.; Morocutti, Cristoforo; Pierelli, Francesco; Bossuyt, P.; VAN HUL, W.; Casali, Carlo. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 7:5(1999), pp. 579-584. [10.1038/sj.ejhg.5200339] | |
Handle: | http://hdl.handle.net/11573/243461 | |
Appartiene alla tipologia: | 01a Articolo in rivista |