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Article

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Molecular genetics & genomic medicine - 1 Nov 2017

Eggermann Thomas, Oehl-Jaschkowitz Barbara, Dicks Severin, Thomas Wolfgang, Kanber Deniz, Albrecht Beate, Begemann Matthias, Kurth Ingo, Beygo Jasmin, Buiting Karin

Abstract excerpt

BACKGROUND: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS: Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd(6)mat, a...

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Identifiers

PMID: 29178649
DOI: 10.1002/mgg3.324
PMCID: PMC5702562

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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