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Article

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

American journal of medical genetics. Part A - 15 Jan 2008

Wilson Meredith, Peters Gregory, Bennetts Bruce, McGillivray George, Wu Zan He, Poon Christopher, Algar Elizabeth

Abstract excerpt

Recently, mosaicism for genome-wide paternal uniparental disomy (patUPD), attributed to androgenetic/biparental mosaicism, has been shown to underlie placental mesenchymal dysplasia (PMD), a distinctive cystic placental phenotype. Manifestations of Beckwith-Wiedemann syndrome (BWS) have been observed in approximately one-third of fetuses or liveborn infants from pregnancies complicated by PMD. There are very few...

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PMID: 18033734
DOI: 10.1002/ajmg.a.32172

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