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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

20 Feb 2024

Abstract excerpt

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18...

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PMID: 38378781
DOI: 10.1038/s41467-024-45438-1

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