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Article

Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis.

Scientific reports - 25 Mar 2026

Yang Xueting, Maimaiti Subinuer, Qi Qingwei, Zhou Xiya, Hao Na, Chang Jiazhen, Li Mengmeng, Yin Kaili, Lü Yan, Jiang Yulin

Abstract excerpt

This study aimed to resolve diagnostic discrepancies in which expanded carrier screening (ECS) in a healthy population suggested hemophilia A carrier status due to F8 intron 22 inversion (Inv22), while further analysis revealed a true distal Xq28 duplication. We evaluated the clinical utility of integrated genetic technologies in distinguishing between these two entities. A healthy pregnant woman underwent ECS,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41882109
DOI: 10.1038/s41598-026-43654-x
PMCID: PMC13109352

Genes

F8

Provenance

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

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Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis.PMID 41882109Read ↗

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