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An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Sept 2024

Ma Yuanlin, Wang Jing, Wen Tianrui, Xu Yan, Huang Linhuan, Mai Qingyun, Xu Yanwen

Abstract excerpt

Uniparental disomies (UPD) refers to the inheritance of both homologs of a chromosome from only one parent with no representative copy from the other parent. UPD was with an estimated prevalence of 0.15‰ in population. Current understanding of UPD was limited to subjects for which UPD was associated with clinical manifestation due to imprinting disorders or recessive diseases. Segmental UPD was rare, especially...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38780745
DOI: 10.1007/s43032-024-01598-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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