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Article

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.

Electrophoresis - 1 Dec 2008

Giardina Emiliano, Peconi Cristina, Cascella Raffaella, Sinibaldi Cecilia, Nardone Anna Maria, Novelli Giuseppe

Abstract excerpt

Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%-5% of AS are a consequence of UPD with the resulting phenotype generated from...

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Identifiers

PMID: 19053076
DOI: 10.1002/elps.200800047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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