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

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

Journal of medical genetics - 1 Apr 2010

Beunders Gea, van de Kamp Jiddeke M, Veenhoven Reinier H, van Hagen Johanna M, Nieuwint Aggie W M, Sistermans Erik A

Abstract excerpt

BACKGROUND: Intrachromosomal triplications are rare chromosomal rearrangements. In most triplication cases the phenotype is similar to, but more severe than observed in patients with a duplication of the same region. The Williams-Beuren syndrome (WBS) region on 7q11.23, is prone to chromosomal re...

Read the complete abstract on PubMed

Topics

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

Share to Behavioral Symptoms
Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Developmental Disabilities

Share to Gene Rearrangement

Share to Intellectual Disability

Share to Trisomy

Share to Williams Syndrome

Source

Identifiers

PMID: 19752158
DOI: 10.1136/jmg.2009.070490

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19752158-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.PMID 19752158Read ↗

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

Williams-Beuren syndrome: genes and mechanisms.Semantic 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 ↗

Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.Semantic proximity Read ↗

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.Semantic proximity Read ↗

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

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.Semantic proximity Read ↗

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

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.Semantic proximity Read ↗

[Williams syndrome: its clinical aspects and molecular bases].Semantic proximity Read ↗

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

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