Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2007-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100005 |