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

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

American journal of medical genetics. Part A - 1 Aug 2013

Torti Erin E, Braddock Stephen R, Bernreuter Kristen, Batanian Jacqueline R

Abstract excerpt

An array-CGH on 19-year-old male showed a proximal 1.11 Mb duplication and a distal 1.7 Mb deletion of 22q11.2 regions flanking the Velocardiofacial/DiGeorge syndrome region that remained intact. FISH analyses revealed both abnormalities to be on the same homolog 22. This double rearrangement lea...

Read the complete abstract on PubMed

Topics

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

Share to Aneuploidy
Share to Chromosome Disorders
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to Comparative Genomic Hybridization

Share to Eye Abnormalities

Share to Gene Rearrangement

Share to Goldenhar Syndrome

Source

Identifiers

PMID: 23894059
DOI: 10.1002/ajmg.a.35918

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23894059-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.PMID 23894059Read ↗

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.Semantic proximity Read ↗

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.Semantic proximity Read ↗

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.Semantic proximity Read ↗

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.Semantic proximity Read ↗

Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.Semantic proximity Read ↗

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.Semantic proximity Read ↗

Clinical and cytogenomic findings in OAV spectrum.Semantic proximity Read ↗

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex diseaseSemantic proximity Read ↗

Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum.Semantic proximity Read ↗

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.Semantic proximity Read ↗

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.Semantic proximity Read ↗

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

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