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

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.

American journal of medical genetics. Part A - 1 Apr 2025

Elron Eyal, Shohat Mordechai, Basel-Salmon Lina, Kahana Sarit, Matar Reut, Klein Kochav, Agmon-Fishman Ifaat, Gurevitch Merav, Berger Rachel, Brabbing-Goldstein Dana, Levy Michal, Maya Idit

Abstract excerpt

This study investigates distal 2q13 microdeletion, presenting the largest cohort to date, including prenatal cases, alongside a comprehensive literature review. A retrospective analysis was conducted on distal 2q13 microdeletions from clinical charts and laboratory reports. The cohort was divided into "clinically indicated" and "not-clinically indicated" groups based on the reason for chromosomal microarray...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 2

Share to Infant

Share to Intellectual Disability

Share to Pregnancy

Source

Identifiers

PMID: 39587838
DOI: 10.1002/ajmg.a.63946

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.PMID 39587838Read ↗

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

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Semantic proximity Read ↗

22q11.2 duplications: Expanding the clinical presentation.Semantic proximity Read ↗

Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review.Semantic proximity Read ↗

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.Semantic proximity Read ↗

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomaliesSemantic proximity Read ↗

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.Semantic proximity Read ↗

Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsSemantic proximity Read ↗

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.Semantic proximity Read ↗

Deletion 22q11: Spectrum of Associated DisordersSemantic proximity Read ↗

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Semantic proximity Read ↗

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.Semantic proximity Read ↗

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