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Article

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Cytogenetic and genome research - 1 Jan 2017

Santoro Stephanie L, Hashimoto Sayaka, McKinney Aimee, Mihalic Mosher Theresa, Pyatt Robert, Reshmi Shalini C, Astbury Caroline, Hickey Scott E

Abstract excerpt

Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We...

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Share to Chromosomes, Human, Pair 15
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 28746920
DOI: 10.1159/000478921

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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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