Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome

Genetics and Molecular Biology

Deise Helena De Souza²  Danilo Moretti-ferreira²  Lígia Maria Suppo De Souza Rugolo¹ 

[1] ,Universidade Estadual Paulista Instituto de Biociências Departamento de GenéticaBotucatu SP ,Brasil

关键词: 7q11.23 deletion;    ELN;    FISH;    Williams-Beuren syndrome;   

DOI  :  10.1590/S1415-47572007000100005

来源: SciELO

【 摘 要 】

Fluorescent 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.

【 授权许可】

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