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Article

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.

Journal of human genetics - 1 Feb 2023

Fujimoto Masanori, Nakamura Yuji, Iwaki Toshihiko, Sato Emi, Ieda Daisuke, Hattori Ayako, Shiraki Anna, Mizuno Seiji, Saitoh Shinji

Abstract excerpt

Angelman syndrome (AS) is caused by the functional absence of the maternal ubiquitin-protein ligase E3A (UBE3A) gene. Approximately 5% of AS is caused by paternal uniparental disomy of chromosome 15 (UPD(15)pat), most of which is considered to result from monosomy rescue. However, little attention has focused on how UPD(15)pat occurs. We suggest the mitotic nondisjunction mechanism as a cause of UPD(15)pat in a...

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PMID: 36224263
DOI: 10.1038/s10038-022-01088-z

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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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