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Article

Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

American journal of medical genetics. Part A - 1 Oct 2015

Darcy Diana, Atwal Paldeep Singh, Angell Cathy, Gadi Inder, Wallerstein Robert

Abstract excerpt

We report on a 6-month-old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome-wide uniparental isodisomy (GWUPiD), identified using single nucleotide polymorphism (SNP) based microarray and microsatellite analysis of polymorphic loci. The patient has Beckwith-Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which...

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PMID: 26219535
DOI: 10.1002/ajmg.a.37187

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