FISH analysis in patients with clinical diagnosis of Williams syndrome

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

ACTA PAEDIATRICA, cilt.87, sa.1, ss.48-53, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 87 Sayı: 1
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1080/08035259850157868
  • Dergi Adı: ACTA PAEDIATRICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.48-53
  • Anahtar Kelimeler: elastin gene, deletion, FISH, in situ hybridization, Williams syndrome, ELASTIN GENE, HEMIZYGOSITY, DELETIONS, LOCUS, PROFILE
  • Marmara Üniversitesi Adresli: Hayır

Özet

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.