New Technique Identifies First Prehistoric Person with Turner Syndrome

Researchers at the Francis Crick Institute used a novel method to analyze ancient DNA, revealing the earliest known cases of several chromosomal conditions.

• Researchers at the Francis Crick Institute have developed a new technique to measure the number of chromosomes in ancient genomes more precisely, identifying the first prehistoric person with Turner syndrome, who lived about 2500 years ago.
• The team also identified the earliest known person with Jacob's syndrome in the Early Medieval Period, three people with Klinefelter syndrome across a range of time periods and an infant with Down Syndrome from the Iron Age.
• The new method involves counting the number of copies of X and Y chromosomes, and comparing the outcome to a predicted baseline.
• The team used the new method to analyse ancient DNA from a large dataset of individuals collected as part of their Thousand Ancient British Genomes project across British history.
• The individuals with these chromosomal conditions were buried according to their society's customs, suggesting they were accepted members of their societies.

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