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Article

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.

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

Fernández-Jaén Alberto, Castellanos María del Carmen, Fernández-Perrone Ana Laura, Fernández-Mayoralas Daniel Martín, de la Vega Alberto González, Calleja-Pérez Beatriz, Fernández Ester Corbacho, Albert Jacobo, Hombre María Carmen Sánchez

Abstract excerpt

Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development...

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Source

Identifiers

PMID: 24838842
DOI: 10.1002/ajmg.a.36559

Genes

BDH1
DLG1
FBXO45
PAK2

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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