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Article

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

American journal of medical genetics. Part A - 1 Aug 2010

Irving Melita D, Buiting Karin, Kanber Deniz, Donaghue Celia, Schulz Reiner, Offiah Amaka, Mohammed Shehla N, Oakey Rebecca J

Abstract excerpt

Uniparental disomy (UPD) for chromosome 14 is associated with well-recognized phenotypes, depending on the parent of origin. Studies in mouse models and human patients have implicated the involvement of the distal region of the long arm of chromosome 14 in the distinctive phenotypes. This involvement is supported by the identification of an imprinting cluster at chromosome 14q32, encompassing the differentially...

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Share to Abnormalities, Multiple
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 14

Share to Genomic Imprinting

Share to Intercellular Signaling Peptides and Proteins

Share to Regulatory Sequences, Nucleic Acid

Share to RNA, Long Noncoding

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 20602488
DOI: 10.1002/ajmg.a.33449
PMCID: PMC3819653

Genes

DLK1
DIO3

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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