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

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 (Edwards syndrome), and all cases are present in infant or perinatal burials.

Citation:
Rohrlach AB, Rivollat M, de-Miguel-Ibáñez P, ……. Llamas B, Tiliakou A, et al. Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA. Nat Commun. 2024;15(1):1294

Keywords:
Chromosome disorder; genetics; DNA; down syndrome; trisomy 13; trisomy 18

Abstract:
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 (Edwards syndrome), and all cases are present in infant or perinatal burials.