Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Journal of medical genetics - 1 Dec 1996

Joyce C A, Zorich B, Pike S J, Barber J C, Dennis N R

Abstract excerpt

Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22/23 (96%) had a submicroscopic deletion of the elastin locus on chromosome 7, but the remaining patient had a unique interstitial deletion of chromosome 11...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genetic Variation

Share to Genotype

Share to Infant

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 9004128
DOI: 10.1136/jmg.33.12.986
PMCID: PMC1050807

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.PMID 9004128Read ↗

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.Semantic proximity Read ↗

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.Semantic proximity Read ↗

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.Semantic proximity Read ↗

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysisSemantic proximity Read ↗

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.Semantic proximity Read ↗

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.Semantic proximity Read ↗

Williams syndrome and related disorders.Semantic proximity Read ↗

A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.Semantic proximity Read ↗

[Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].Semantic proximity Read ↗

Autism and Williams syndrome: a case report.Semantic proximity Read ↗

Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review.Semantic proximity Read ↗

[Atypical deletions in Williams-Beuren syndrome].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.