FISH analysis in patients with clinical diagnosis of Williams syndrome

Elcioglu N., Mackie-Ogilvie C., Daker M., Berry A.

ACTA PAEDIATRICA, vol.87, no.1, pp.48-53, 1998 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 87 Issue: 1
  • Publication Date: 1998
  • Doi Number: 10.1080/08035259850157868
  • Journal Name: ACTA PAEDIATRICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.48-53
  • Keywords: elastin gene, deletion, FISH, in situ hybridization, Williams syndrome, ELASTIN GENE, HEMIZYGOSITY, DELETIONS, LOCUS, PROFILE
  • Marmara University Affiliated: No

Abstract

Williams syndrome is a rare neurodevelopmental disorder with variable phenotypic expression and a contiguous gene syndrome caused by deletion of the elastin gene. In our study, hemizygosity at the elastin locus was investigated using FISH analyses in 16 sporadic cases with a firm clinical diagnosis of Williams syndrome, and the characteristic features were evaluated. Fourteen patients were found to have deletions; 2 further patients did not have deletions of the elastin gene, but did have the clinical features. The presence of two copies of the elastin gene locus in a patient does not rule out Williams syndrome as a diagnosis. Since deletion of the elastin gene, which continues to be a useful confirmatory diagnostic test, cannot account for several features found in Williams syndrome, the non-deletion patients will be valuable in further delineation of the critical region responsible for the Williams syndrome phenotype.