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Article

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Cold Spring Harbor molecular case studies - 1 Dec 2021

Berland Siren, Rustad Cecilie F, Bentsen Mariann H L, Wollen Embjørg J, Turowski Gitta, Johansson Stefan, Houge Gunnar, Haukanes Bjørn I

Abstract excerpt

Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith-Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, hemangiomas, and earlobe creases) in addition to conjugated hyperbilirubinemia. His phenotype was also reminiscent of genome-wide paternal uniparental isodisomy. We discuss the most likely origin...

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PMID: 34615670
DOI: 10.1101/mcs.a006113
PMCID: PMC8751407

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