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Article

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

American journal of medical genetics. Part A - 1 Apr 2014

Thapa Monika, Asamoah Alexander, Gowans Gordon C, Platky Kathryn C, Barch Margaret J, Mouchrani Patricia, Rajakaruna Cecilia, Hersh Joseph H

Abstract excerpt

Pure/direct duplications on the long arm of chromosome 4 represent an infrequent chromosomal finding. Description of clinical findings in 30 patients has resulted in defining the 4q-associated phenotype. However, such duplications have not been molecularly or genomically characterized yet, limiti...

Read the complete abstract on PubMed

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Share to Abnormalities, Multiple
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 4

Share to Comparative Genomic Hybridization

Share to Genes, Duplicate

Share to Genomic variations and chromosomal abnormalities

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Source

Identifiers

PMID: 24459084
DOI: 10.1002/ajmg.a.36396

Genes

GLRA3
HAND2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24459084-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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