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Article

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

American journal of medical genetics. Part A - 1 Oct 2012

Riess Angelika, Grasshoff Ute, Schäferhoff Karin, Bonin Michael, Riess Olaf, Horber Veronka, Tzschach Andreas

Abstract excerpt

Interstitial deletions of the short arm of chromosome 3 are rare. We report on a 3-year-old girl with intellectual disability, muscular hypotonia, strabismus, and facial anomalies in whom an interstitial 1.24 Mb deletion in 3p25.3-p26.1 was detected by SNP array analysis. The deleted region harbo...

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Share to Child, Preschool
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Share to GTPase-Activating Proteins

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Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 22965684
DOI: 10.1002/ajmg.a.35562

Genes

CAV3
SRGAP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22965684-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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