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FISH analysis in patients with clinical diagnosis of Williams syndrome *
Author(s) -
Elçioglu N,
MackieOgilvie C,
Daker M,
Berry AC
Publication year - 1998
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1998.tb01384.x
Subject(s) - elastin , locus (genetics) , williams syndrome , phenotype , medicine , gene , genetics , pathology , bioinformatics , biology , psychiatry , cognition
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.