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Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia

2025-11-04

Abstract excerpt

<h4>Summary</h4> Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and atypical physical features whose genetic diagnosis was initially inconclusive. Over time, his bone marrow karyotype shifted from diploid (46,XY) to triploid (69,XXY). The triploid cells lacked the Fanco...

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Literature Corpus work
b9800c55-a5a1-5db7-9bb0-70c102ae652c
DOI
10.1101/2025.10.29.25337140
Open publication

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Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemiaDOI 10.1101/2025.10.29.25337140
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