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Article

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.

American journal of medical genetics. Part A - 1 Jan 2013

Inbar-Feigenberg Michal, Choufani Sanaa, Cytrynbaum Cheryl, Chen Yi-An, Steele Leslie, Shuman Cheryl, Ray Peter N, Weksberg Rosanna

Abstract excerpt

Mosaicism for genome-wide paternal uniparental disomy (UPD) has been reported in only seven live born individuals to date. Clinical presentation includes manifestations of multiple paternal UPD syndromes with high variability, likely due to the variable levels of mosaicism in different somatic tissues. We report an eighth case in a female patient with mosaicism for genome-wide paternal UPD which highlights the...

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PMID: 23239666
DOI: 10.1002/ajmg.a.35651

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