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

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

11 Jun 2015

Abstract excerpt

The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five are currently candidates for the phenotypic features. Here we describe four patients and five families with eight microduplications of 8p23.1 ranging from 187 to 1082 kb in size and one atypical duplication of 4 Mb. These indicate...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Congenital heart defects research
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26097203
DOI: 10.1002/ajmg.a.37120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significancePMID 26097203Read ↗

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsSemantic proximity Read ↗

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.Semantic proximity Read ↗

The genetics of microdeletion and microduplication syndromes: an update.Semantic proximity Read ↗

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.Semantic proximity Read ↗

Proximal 1q21 duplication: A syndrome or a susceptibility locus?Semantic proximity Read ↗

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.Semantic proximity Read ↗

Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworksSemantic proximity Read ↗

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.Semantic proximity Read ↗

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.Semantic proximity Read ↗

Common recurrent microduplication syndromes: Diagnosis and management in clinical practiceSemantic proximity Read ↗

Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position EffectSemantic proximity Read ↗

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesSemantic proximity Read ↗

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