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Article

Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.

European journal of human genetics : EJHG - 1 Jan 2026

Wen Ting, Akay Gulsen, Palumbos Janice, Ostrander Betsy, Quigley Denise I, Lamb Allen N, Andersen Erica F, Hong Bo, Viskochil David

Abstract excerpt

Carriers of balanced pericentric inversions are at risk for producing unbalanced gametes because of meiotic recombination resulting in de novo deletion and duplication of distal chromosome ends. Recombinant chromosomes generally lead to significant imbalances resulting in anomalous clinical phenotypes in offspring, hence they are typically not inherited. Therefore, the vertical transmission of recombinant...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 40628998
DOI: 10.1038/s41431-025-01878-x
PMCID: PMC12816133

Genes

TGIF1

Provenance

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