Souza, Deise Helena deMoretti-Ferreira, DaniloSouza Rugo, Ligia Maria Suppo de2020-12-102020-12-102007-03-01Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 30, n. 1, p. 17-20, 2007.1415-4757http://hdl.handle.net/11449/195865Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.17-20eng7q11.23 deletionELNFISHWilliams-Beuren syndromeFluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndromeArtigoWOS:000245281700005