Humanities

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

A. B. Rohrlach, M. Rivollat, et al.

In an unprecedented exploration, this study examines nearly 10,000 ancient human genomes revealing intriguing cases of trisomy. Six instances of trisomy 21 and one of trisomy 18 were identified, predominantly in infant or perinatal burials, showcasing potential societal acknowledgment of these individuals. Conducted by a collaborative team of experts, these findings shed light on early Iron Age Spain's community practices.

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Abstract

This study screens nearly 10,000 ancient human genomes for trisomies. Seven cases of trisomy were found (six trisomy 21, one trisomy 18), all in infant or perinatal burials. Osteological examinations revealed overlapping skeletal markers consistent with these syndromes. Three trisomy 21 cases and the trisomy 18 case were from contemporaneous early Iron Age Spain (800–400 BCE), suggesting a potentially higher frequency in that society. Burial practices indicated that these individuals were likely acknowledged as community members.

Publisher

Nature Communications

Published On

Feb 20, 2024

Authors

Adam Benjamin Rohrlach, Maïté Rivollat, Patxuka de-Miguel-Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C. Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane Buikstra, Päivi Onkamo, Philipp W. Stockhammer, Henrike O. Heyne, Johannes R. Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer

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