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Placental mosaicism for autosomal trisomies: comprehensive follow-up of 528 Danish cases (1983–2021)

19 Sept 2024

Abstract excerpt

BACKGROUND: Mosaicism, characterized by the presence of two or more chromosomally distinct cell lines, is detected in 2% to 4% of chorionic villus samples (CVSs). In these cases, the aberration may be confined to the placenta or additionally present in the fetus. Fetal involvement may manifest as fetal malformations, while confined placental mosaicism (CPM) poses risks such as preterm birth and low birth weight....

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Share to Genetic Syndromes and Imprinting
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PMID: 39303978
DOI: 10.1016/j.ajogmf.2024.101497

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