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Article

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.

European journal of human genetics : EJHG - 1 Aug 2008

Hosoki Kana, Ogata Tsutomu, Kagami Masayo, Tanaka Touju, Saitoh Shinji

Abstract excerpt

Maternal uniparental disomy for chromosome 14 (upd(14)mat) causes clinically discernible features such as pre- and/or postnatal growth failure, hypotonia, obesity, small hands, and early onset of puberty. The monoallelic expression patterns at the 14q32.2 imprinted region are tightly related to methylation status of the DLK1-MEG3 intergenic differential methylation region (DMR) and the MEG3-DMR that are severely...

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Share to Chromosomes, Human, Pair 14
Share to DNA, Intergenic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18478039
DOI: 10.1038/ejhg.2008.90

Genes

DLK1

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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Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.PMID 18478039Read ↗

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