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

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

American journal of human genetics - 1 Oct 2007

Fickelscher Ina, Liehr Thomas, Watts Kathryn, Bryant Victoria, Barber John C K, Heidemann Simone, Siebert Reiner, Hertz Jens Michael, Tumer Zeynep, Simon Thomas N

Abstract excerpt

Human chromosome 2 contains large blocks of segmental duplications (SDs), both within and between proximal 2p and proximal 2q, and these may contribute to the frequency of the common variant inversion inv(2)(p11.2q13). Despite their being cytogenetically homogeneous, we have identified four diffe...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Breakage
Share to Chromosome Inversion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Artificial, Bacterial

Share to Chromosomes, Human, Pair 2

Share to Gene Rearrangement

Share to Haplotypes

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Source

Open in PubMed Open full text

Identifiers

PMID: 17847011
DOI: 10.1086/521226
PMCID: PMC2227935

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17847011-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.PMID 17847011Read ↗

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.Semantic proximity Read ↗

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.Semantic proximity Read ↗

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.Semantic proximity Read ↗

Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangementsSemantic proximity Read ↗

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.Semantic proximity Read ↗

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion SyndromeSemantic proximity Read ↗

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.Semantic proximity Read ↗

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.Semantic proximity Read ↗

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.Semantic proximity Read ↗

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.Semantic proximity Read ↗

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.Semantic proximity Read ↗

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.Semantic proximity Read ↗

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