Medicine and Health

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

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

This groundbreaking study delves into nearly 10,000 ancient human genomes, revealing new cases of trisomy 21 and trisomy 18 in infant burials, alongside unique osteological markers. The findings from early Iron Age Spanish sites challenge previous understandings of societal acceptance of individuals with these syndromes, as the research conducted by Adam Benjamin Rohrlach and colleagues suggests that these individuals were recognized as valued members of their communities.

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Abstract

This study screens nearly 10,000 ancient human genomes for trisomies, identifying six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), all in infant or perinatal burials. Osteological examinations reveal overlapping skeletal markers consistent with these syndromes. Three trisomy 21 cases and the trisomy 18 case were found in contemporaneous early Iron Age Spanish sites (800–400 BCE), suggesting potentially higher burial frequency of trisomy carriers in those societies. Burial practices indicate 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, Yaor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedour, Naya Polychronakou-Sgouritsa, Jane Buikstra, Paivi Okanmo, Philipp W. Stockhammer, Henrik O. Heyne, Johannes R. Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer

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