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Article

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

The Journal of pediatrics - 1 Dec 2009

Hosoki Kana, Kagami Masayo, Tanaka Touju, Kubota Masaya, Kurosawa Kenji, Kato Mitsuhiro, Uetake Kimiaki, Tohyama Jun, Ogata Tsutomu, Saitoh Shinji

Abstract excerpt

OBJECTIVE: To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype. STUDY DESIGN: We examined 78 patients with PWS-like phenotype who lacked molecular defects for PWS. The MEG3 methylation test followed by microsatellite polymorphism analysis of chromosome 14 was performed to detect upd(14)mat or other related...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19800077
DOI: 10.1016/j.jpeds.2009.06.045

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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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