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]
Molecular and clinical examination of an italian DEFECT 11 family.
BIANCO, Federico;MOROCUTTI, Cristoforo;PIERELLI, Francesco;CASALI, Carlo
1999
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
