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

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

European journal of human genetics : EJHG - 1 Apr 2014

Tyson Christine, Sharp Andrew J, Hrynchak Monica, Yong Siu L, Hollox Edward J, Warburton Peter, Barber John Ck

Abstract excerpt

Copy number variants visible with the light microscope have been described as euchromatic variants (EVs) and EVs with extra G-light material at 8q21.2 have been reported only once before. We report four further patients with EVs of 8q21.2 ascertained for clinical (3) or reproductive reasons (1)....

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosomes, Artificial, Bacterial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to DNA Copy Number Variations

Share to Hepatitis C

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Segmental Duplications, Genomic

Source

Open in PubMed Open full text

Identifiers

PMID: 24045839
DOI: 10.1038/ejhg.2013.185
PMCID: PMC3953911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24045839-2026-09-04.2. 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 · 11 closest

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.PMID 24045839Read ↗

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.Semantic proximity Read ↗

Another family with a euchromatic duplication variant of 9q13-q21.1 derived from segmentally duplicated pericentromeric euchromatin.Semantic proximity Read ↗

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.Semantic proximity Read ↗

Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variantsSemantic proximity Read ↗

Chromosome abnormalities without phenotypic consequences.Semantic proximity Read ↗

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.Semantic proximity Read ↗

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.Semantic proximity Read ↗

Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level.Semantic proximity Read ↗

A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.Semantic proximity Read ↗

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.Semantic proximity Read ↗

Direct visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.Semantic proximity Read ↗

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