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Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

Genetic testing - 1 Jan 2006

Martínez Francisco, León Ana María, Monfort Sandra, Oltra Silvestre, Roselló Mónica, Orellana Carmen

Abstract excerpt

We present a new method for differential diagnosis of Prader-Willi (PWS) and Angelman syndromes (AS) that requires only a small amount of DNA including that obtained from amniocentesis specimens. This method not only proved to be robust and rapid, but, most importantly, it can be dosage sensitive, supplying additional information useful for genetic counselling. After methylation-dependent digestion of DNA with...

Topics

Angelman Syndrome
DNA Methylation
Gene Dosage
Humans
Mutation
Prader-Willi Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17020468
DOI: 10.1089/gte.2006.10.174

Genes

SNRPN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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