title: Molecular and clinical examination of an Italian DEFECT11 family.
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium. wwuyts@uia.ua.ac.be
authors.forename: W
authors.initials: W
authors.lastname: Wuyts
authors.forename: G
authors.initials: G
authors.lastname: Di Gennaro
authors.forename: F
authors.initials: F
authors.lastname: Bianco
authors.forename: J
authors.initials: J
authors.lastname: Wauters
authors.forename: C
authors.initials: C
authors.lastname: Morocutti
authors.forename: F
authors.initials: F
authors.lastname: Pierelli
authors.forename: P
authors.initials: P
authors.lastname: Bossuyt
authors.forename: W
authors.initials: W
authors.lastname: Van Hul
authors.forename: C
authors.initials: C
authors.lastname: Casali
mesh_terms: D000328:Adult; D002490:Central Nervous System / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002880:Chromosomes, Human, Pair 11; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D010294:Parietal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography; D017384:Sequence Deletion; D013577:Syndrome