ArticleNature communications2024
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- High-coverage paleo-genome research identifies a pathogenic mutation on EXT1 in a Qing-period Chinese individual with multiple osteochondromas.Molecular genetics and genomics : MGG · 2026Article
- Ancient DNA reveals elite dynastic rule among Iron Age Eurasian Steppe nomads.Science advances · 2026Article
- ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies.Bioinformatics (Oxford, England) · 2026Article
- The history of Down syndrome-associated Alzheimer's disease; past, present, and future.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Complete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting.Radiology case reports · 2025Article
- Cemento-Osseous Dysplasia in a Female Bronze Age Skeleton (North Caucasus).Head and neck pathology · 2025Article
- Down syndrome burden in China and globally: a comparative analysis of 1990-2021 trends and future projections based on GBD 2021 database.Frontiers in public health · 2025Article
- The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research.Orphanet journal of rare diseases · 2024Article
- The child who lived: Down syndrome among Neanderthals?Science advances · 2024Article
Corrections and comments
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Authors and funding
26 authors at 15 institutions in 13 countries.
Funding
Abstract
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.
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