Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

Brewer, Carole; Morrison, N; Tolmie, J L

doi:10.1136/adc.74.1.59

Cited by 15 publications

(10 citation statements)

References 12 publications

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“…Recent studies have indicated the prevalence of elastin gene deletion along with tightly linked markers in classical WS ranging from 75% to nearly 100% (12)(13)(14)(15)(16)(17)(18). The deletion breakpoints occur at duplicated regions of sequence homology.…”

Section: Discussionmentioning

confidence: 99%

FISH analysis in patients with clinical diagnosis of Williams syndrome

Elçioğlu¹,

Mackie-Ogilvie²,

Daker³

et al. 1998

SPAE

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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.

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Section: Discussionmentioning

confidence: 99%

FISH analysis in patients with clinical diagnosis of Williams syndrome

Elçioğlu¹,

Mackie-Ogilvie²,

Daker³

et al. 1998

SPAE

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“…3,[6][7][8][9][10][11] Because the gene encoding elastin is deleted in nearly all cases of WS, screening with a fluorescent in situ hybridization (FISH) probe for this gene deletion has become the diagnostic test of choice. 6,8,[12][13][14][15] Infantile hypercalcemia has been reported for ϳ15% of infants and children with WS. 16 The hypercalcemia in infancy usually occurs in the first years of life, resolving in most cases by 4 years of age, but it may recur during puberty.…”

mentioning

confidence: 99%

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

et al. 2004

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Infantile hypercalcemia occurs in approximately 15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.

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“…Hemizygosity for the elastin gene was identified using FISH (fluorescence in-situ hybridization) with the LSI Williams Syndrome Region DNA probe (VYSIS®) (Figures 1, 2, and 3a,b) as described elsewhere. 11 We also performed a meta-analysis of 11 studies selected from the literature to establish the clinical features that are associated with FISH-positive patients; these studies were those of Borg et al (1995), 12 Brewer et al (1995), 13 Kotzot et al (1995), 14 Lowery et al (1995), 15 Nickerson et al (1995), 16 Joyce et al (1996) 17 , Perez Jurado et al (1996), 18 Brondum-Nielsen et al (1997), 19 Elcioglu et al (1998); 20 Mila et al (1999), 21 and Beust et al (2000). 22 A total of 597 patients with WS were analyzed (including 20 patients of our sample), and among them, 361 individuals had the microdeletion of the ELN locus.…”

Section: Methodsmentioning

confidence: 99%

Williams Syndrome. Development of a New Scoring System for Clinical Diagnosis

Sugayama

Leone

Chauffaille

et al. 2007

Clinics

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OBJECTIVE:To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. METHODS:The fluorescent in-situ hybridization test was performed on 20 patients presenting William syndrome suggestive clinical features. Eleven studies were selected from the literature in which there were 2 groups: patients with positive or negative fluorescent in-situ hybridization tests. Forty-two clinical characteristics were compared to those reported in the literature to determine which ones were associated with the affected patients (ie, bearing deletions) using meta-analysis. The 2-tailed Fisher exact test were used so that the frequency of findings observed in fluorescent in-situ hybridization positive and fluorescent in-situ hybridization negative patients could be compared in the present study together with the patients from the literature. We developed a scoring system based on clinical findings and their significant associations with patients with positive fluorescent in-situ hybridization tests. From the mean and standard-deviation values of the data from our patients, we determined the cut-off score that that indicated the need for a fluorescent in-situ hybridization test to confirm diagnosis. RESULTS: Seventeen patients were fluorescent in-situ hybridization positive, and 3 were fluorescent in-situ hybridization negative. The more discriminative findings among fluorescent in-situ hybridization positive patients were the following: typical facies, low birth weight, feeding difficulties, constipation, supravalvar aortic stenosis, mental retardation, and friendly personality. The distribution of the points among the 20 patients ranged from 19 to 28 points with a mean value of 23.3 out of a possible total of 31 points. The cut-off score that indicated the need for a fluorescent in-situ hybridization test was 20. CONCLUSIONS: Our scoring system enables physicians to differentiate between those individuals who can be reliably diagnosed as having Williams syndrome solely from the clinical findings and those who need to undergo fluorescent in-situ hybridization testing for a correct diagnosis.

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Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

Abstract: Sixteen children and adolescents with a firm clinical diagnosis of Williams syndrome were investigated with the chromosome fluorescence in situ hybridisation (FISH)

Cited by 15 publications

References 12 publications

FISH analysis in patients with clinical diagnosis of Williams syndrome

FISH analysis in patients with clinical diagnosis of Williams syndrome

Severe Infantile Hypercalcemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate

Williams Syndrome. Development of a New Scoring System for Clinical Diagnosis

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