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

Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion.

The journal of allergy and clinical immunology. In practice - 1 Oct 2020

Cirillo Emilia, Prencipe Maria Rosaria, Giardino Giuliana, Romano Roberta, Scalia Giulia, Genesio Rita, Nitsch Lucio, Pignata Claudio

Abstract excerpt

BACKGROUND: The phenotype of early embryonic fourth branchial arch defects encompasses a wide spectrum of clinical conditions including DiGeorge syndrome (DGS), velocardiofacial syndrome, and conotruncal anomaly face syndrome. The majority of the patients have a 22q11.2 deletion. However, in 6% to 17% of patients, the identification of a genetic cause remains unknown through fluorescence in situ hybridization. In...

Read the complete abstract on PubMed

Topics

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

Share to Comparative Genomic Hybridization
Share to DiGeorge Syndrome

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

Share to Genomics

Share to In Situ Hybridization, Fluorescence

Share to Phenotype

Source

Identifiers

PMID: 32668295
DOI: 10.1016/j.jaip.2020.06.051

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

Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion.PMID 32668295Read ↗

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

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)Semantic proximity Read ↗

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and ManagementSemantic proximity Read ↗

[Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome].Semantic proximity Read ↗

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)Semantic proximity Read ↗

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

The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndromeSemantic proximity Read ↗

DiGeorge Syndrome: a not so rare disease.Semantic proximity Read ↗

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.Semantic proximity Read ↗

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

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

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)Semantic proximity Read ↗

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