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

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.

European journal of human genetics : EJHG - 1 Apr 2015

Stevens Servi J C, Blom Eveline W, Siegelaer Ingrid T J, Smeets Eric E J G L

Abstract excerpt

We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by two homologous segmental duplications consisting of low copy repeat (LCR) blocks in direct orientation, which have >99% sequence identity. Despite the fact that the deletion was almost 10 Mbp in size, the patients...

Read the complete abstract on PubMed

Topics

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

Share to alpha Catenin
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to Homologous Recombination

Share to Intellectual Disability

Share to Membrane Transport Proteins

Share to Segmental Duplications, Genomic

Source

Open in PubMed Open full text

Identifiers

PMID: 24986827
DOI: 10.1038/ejhg.2014.124
PMCID: PMC4666567

Genes

REEP1
CTNNA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.PMID 24986827Read ↗

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.Semantic proximity Read ↗

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.Semantic proximity Read ↗

Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.Semantic proximity Read ↗

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.Semantic proximity Read ↗

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.Semantic proximity Read ↗

The phenotype of recurrent 10q22q23 deletions and duplications.Semantic proximity Read ↗

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature reviewSemantic proximity Read ↗

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.Semantic proximity Read ↗

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated FeaturesSemantic proximity Read ↗

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.Semantic proximity Read ↗

Central 22q11.2 deletions.Semantic proximity Read ↗

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.Semantic proximity Read ↗

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