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

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature

11 Nov 1996

Abstract excerpt

The DiGeorge (DG), velocardiofacial (VCF), and conotruncal anomaly-face (CTAF) syndromes were originally described as distinct disorders, although overlapping phenotypes have been recognized. It is now clear that all three syndromes result from apparently similar or identical 22q11.2 deletions, suggesting that they represent phenotypic variability of a single genetic syndrome. We report on 12 individuals in five...

Read the complete abstract on PubMed

Topics

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

Share to Cleft Lip and Palate Research
Share to Congenital Anomalies and Fetal Surgery
Share to Congenital heart defects research

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

Source

Identifiers

PMID: 8923941
DOI: 10.1002/(sici)1096-8628(19961111)65:4<309::aid-ajmg12>3.0.co;2-y

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

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literaturePMID 8923941Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.Semantic proximity Read ↗

Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial SyndromeSemantic proximity Read ↗

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.Semantic proximity Read ↗

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromesSemantic proximity Read ↗

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.Semantic proximity Read ↗

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).Semantic proximity Read ↗

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.Semantic proximity Read ↗

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial SyndromeSemantic proximity Read ↗

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.Semantic proximity Read ↗

22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromesSemantic proximity Read ↗

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.Semantic proximity Read ↗

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