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Article

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

American journal of medical genetics. Part A - 1 Sept 2011

Dukes-Rimsky Lynn, Guzauskas Gregory F, Holden Kenton R, Griggs Rachel, Ladd Sydney, Montoya Maria del Carmen, DuPont Barbara R, Srivastava Anand K

Abstract excerpt

Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ...

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Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21834054
DOI: 10.1002/ajmg.a.34137
PMCID: PMC3325782

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.

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