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Integrating osteological and biomolecular evidence to investigate chromosomal aneuploidies in past populations​​​​​​​

Chromosomal aneuploidies are difficult to identify on skeletal remains. However, large-scale ancient DNA studies have the potential to identify individuals who had chromosomal variations, which might leave little signs on the skeleton. Analysing those individuals with genetically-identified aneuploidies with osteological and archaeological methods allows us to get information about how they were treated in past societies and if and how they were integrated into their communities, for example via their burial treatment. The skeletal analysis will provide information about their health and specific challenges that they might have faced due to their chromosomal status. The osteological investigation can highlight subtle signs of specific conditions, such as Down and Klinefelter syndromes, in genetically identified individuals and therefore improve the detection of chromosomal aneuploidies in the skeletal record in the absence of genetic analysis.