FISH analysis in patients with clinical diagnosis of Williams syndrome.
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.
Elçioglu
N
N
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Mackie-Ogilvie
C
C
Daker
M
M
Berry
A C
AC
D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D004549:Elastin / Q000235:genetics*; D005069:Evaluation Studies as Topic; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010781:Photography; D012680:Sensitivity and Specificity; D018980:Williams Syndrome / Q000175:diagnosis* / Q000235:genetics*
D004268:DNA-Binding Proteins; D004549:Elastin