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

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

American journal of medical genetics. Part A - 15 Jan 2003

Derbent Murat, Yilmaz Zerrin, Baltaci Volkan, Saygili Arda, Varan Birgül, Tokel Kürşat

Abstract excerpt

This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great...

Read the complete abstract on PubMed

Topics

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

Share to Aorta, Thoracic
Share to Arteries

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 22

Share to Heart Defects, Congenital

Share to Heart Ventricles

Share to Tetralogy of Fallot

Share to Turkey

Source

Identifiers

PMID: 12494430
DOI: 10.1002/ajmg.a.10832

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

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.PMID 12494430Read ↗

Chromosome 22q11 deletions in patients with conotruncal heart defects.Semantic proximity Read ↗

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.Semantic proximity Read ↗

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.Semantic proximity Read ↗

Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.Semantic proximity Read ↗

[Chromosome 22 (22q.11.2) deletion. Etiology of conotruncal heart abnormalities].Semantic proximity Read ↗

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.Semantic proximity Read ↗

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective studySemantic proximity Read ↗

Frequent association of 22q11.2 deletion with tetralogy of FallotSemantic proximity Read ↗

Anatomic patterns of conotruncal defects associated with deletion 22q11.Semantic proximity Read ↗

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population‐based studySemantic proximity Read ↗

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Semantic proximity Read ↗

Chromosome 22q11 deletions in patients with selected outflow tract malformations.Semantic proximity Read ↗

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