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Article

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

Journal of human genetics - 1 Mar 2013

Cho Sung Yoon, Ki Chang-Seok, Sohn Young Bae, Maeng Se Hyun, Jung You Jin, Kim Su Jin, Jin Dong-Kyu

Abstract excerpt

Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copy of maternally imprinted genes in chromosome region 15q11-13. The genetic subtypes of PWS are classified into deletion (~70%), maternal uniparental disomy (mUPD; 25-30%), imprinting center defects (3-5%) and rare unbalanced translocations. Recently, Matsubara et al. reported a significantly higher maternal...

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Source

Identifiers

PMID: 23303386
DOI: 10.1038/jhg.2012.148

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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