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Article

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.

European journal of human genetics : EJHG - 1 Sept 2012

Kagami Masayo, Kato Fumiko, Matsubara Keiko, Sato Tomoko, Nishimura Gen, Ogata Tsutomu

Abstract excerpt

Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hyperme...

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 14
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Intergenic

Share to Genomic Imprinting

Share to In Situ Hybridization, Fluorescence

Share to Maternal Age

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 22353941
DOI: 10.1038/ejhg.2012.26
PMCID: PMC3421115

Genes

DLK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22353941-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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