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. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice

RA-PI-NE-U

This volume, in honour of one of the Odysseuses in Aegean archaeology, Professor Robert Laffineur, comprises a combination of papers presented during a seminar series on recent developments in Mycenaean archaeology at the Université de Louvain during the academic year 2015-2016. These were organised within the frame of the ARC13/18-049 (concerted research action) ’A World in Crisis?’To these are added a series of papers by friends of Robert Laffineur who were keen to offer a contribution to honour him foremost as a friend and scholar in his own right but also as editor of a respected international series founded by him - Aegaeum - and as the driving force and inspiration behind the biannual Aegean meetings that have travelled the world. Several papers within touch scientific domains close to Robert’s heart while others present new excavations or new interpretations of known data