"We apply this method to ancient skeletal remains from Britain to document the first instance of mosaic Turner syndrome (45,X0/46,XX) in the ancient genetic record in an Iron Age individual sequenced to average 9-fold coverage, the earliest known incidence of an individual with a 47,XYY karyotype from the Early Medieval period, as well as individuals with Klinefelter (47,XXY) and Down syndrome (47,XY, + 21)."

Anastasiadou, K., Silva, M., Booth, T. et al. Detection of chromosomal aneuploidy in ancient genomes. Commun Biol 7, 14 (2024). https://doi.org/10.1038/s42003-023-05642-z #OpenAccess #OA #Article #Science #STEM #Biology #Genetics #Ancient #DNA #Population #Genomics #PopulationGenetics #Archaeology #Archaeodons #IronAge #Academia #Academic #Academics @science @biology