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

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

American journal of medical genetics. Part A - 15 Jul 2008

Tam Elaine, Young Edwin J, Morris Colleen A, Marshall Christian R, Loo Wayne, Scherer Stephen W, Mervis Carolyn B, Osborne Lucy R

Abstract excerpt

Williams-Beuren syndrome (WBS) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical...

Read the complete abstract on PubMed

Topics

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

Share to Behavior
Share to Chromosome Inversion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 7

Share to Diagnosis, Differential

Share to Gene Dosage

Share to Intelligence

Share to Penetrance

Share to Williams Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 18553513
DOI: 10.1002/ajmg.a.32360
PMCID: PMC2886033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.PMID 18553513Read ↗

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

Williams-Beuren syndrome: genes and mechanisms.Semantic proximity Read ↗

Prenatal genetic diagnosis of Williams-Beuren syndrome with atypical and complex phenotypes using SNP array and whole exome sequencingSemantic proximity Read ↗

Williams-Beuren syndrome in diverse populations.Semantic proximity Read ↗

High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype.Semantic proximity Read ↗

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].Semantic proximity Read ↗

Severe expressive-language delay related to duplication of the Williams-Beuren locus.Semantic proximity Read ↗

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Semantic proximity Read ↗

Phenotype of 7q11.23 duplication: A family clinical series.Semantic proximity Read ↗

Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.Semantic proximity Read ↗

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.Semantic proximity Read ↗

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.Semantic proximity Read ↗

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