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Article

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

Journal of medical genetics - 1 Oct 2007

Temple I K, Shrubb V, Lever M, Bullman H, Mackay D J G

Abstract excerpt

The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We pr...

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Source

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Identifiers

PMID: 17601927
DOI: 10.1136/jmg.2007.050807
PMCID: PMC2597958

Genes

DLK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17601927-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.PMID 17601927Read ↗

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.Semantic proximity Read ↗

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.Semantic proximity Read ↗

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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.Semantic proximity Read ↗

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control CentersSemantic proximity Read ↗

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.Semantic proximity Read ↗

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.Semantic proximity Read ↗

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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.Semantic proximity Read ↗

Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.Semantic proximity Read ↗

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