June 20, 2024

Ancient DNA Reveals First Known Case of Turner Syndrome from Over 5,000 Years Ago

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Jan 17, 2024

Archaeologists have made the remarkable discovery of the earliest known case of Turner syndrome in a female infant from the Iron Age, revealed through analysis of ancient DNA. The findings provide unprecedented insights into perceptions of genetic differences and developmental disorders in prehistoric societies.

Infant Buried Over 5,000 Years Ago Found to Have Had Turner Syndrome

A research team from the University of Oxford and Stockholm University has uncovered the first known instance of Turner syndrome in the archaeological record. Through advanced DNA sequencing and analysis techniques, the researchers identified Turner syndrome in the genome obtained from a female infant buried around 1200 BC in Unterhautzenthal, Germany.

Turner syndrome is a chromosomal disorder in which a female is partly or completely missing one X chromosome. This can lead to short stature, ovarian dysfunction, heart and kidney defects, and other developmental issues.

The discovery demonstrates that Turner syndrome existed over 5,000 years ago and affected prehistoric societies. The findings were published this month in the journal Nature Communications.

Advanced Techniques Allow Detection of Genetic Disorders in Ancient Remains

Retrieving and analyzing usable DNA from ancient skeletal remains has long posed challenges for archaeologists and geneticists. The overwhelming majority of hominin remains do not yield viable genetic material.

Techniques for extracting and capturing degraded DNA from archaeological specimens have improved vastly in recent years. Combining these methods with powerful next generation genome sequencing has now enabled researchers to probe prehistoric genomes at far greater resolution.

This allows genetic disorders, including aneuploidies like Turner syndrome with missing chromosomes, to be discerned in unprecedented detail.

Commenting on the method’s success with Iron Age samples, study co-lead author Dr Corina Knipper of the ArchaeoBioCenter at Ludwig Maximilian University Munich said:

“This enables us – for the first time – to uncover previous unknown genetic disorders in ancient human populations. As a result we are now able to study when, where and how common such disorders were.”

Type of Genetic Analysis Description
DNA Extraction Isolating DNA fragments from ancient remains
DNA Library Preparation Creating collections of DNA fragments for sequencing
Targeted DNA Enrichment Capturing specific DNA regions of interest
Next Generation Sequencing Massively parallel sequencing of millions of DNA fragments
Bioinformatic Analysis Using algorithms and databases to study genomic data

Table showing stages of advanced analysis allowing genetic disorders to be detected in ancient DNA samples

Infant Burial May Suggest Compassionate Treatment of Genetic Differences

In addition to demonstrating the antiquity of Turner syndrome, analysis of the burial context provides clues into how genetic abnormalities and developmental issues were perceived and dealt with in Iron Age European societies.

The infant, estimated to have been around 4-6 months old at death, was interred lying on her back with legs crossed. She was placed on a specially constructed support along with grave goods including a decorated urn and seashells.

According to archaeologists, the burial signifies the infant was treated with great care and empathy, despite her visible physical differences stemming from Turner syndrome.

Study co-author Professor Joachim Burger of the Johannes Gutenberg University Mainz said:

“The well-preserved burial setting suggests that the community did not discriminate due to visible abnormalities, but that they accepted the infant as an integral part of their group and treated her with the same respect given to other group members.”

This contrasts with disabled infants being discarded or killed shortly after birth, as has been evidenced in some contemporaneous societies.

Findings Give Insights into Developmental Issues and Gender in Prehistory

Along with discovering the most ancient case of Turner syndrome, the researchers identified another infant buried around the same time with symptoms of Down syndrome.

Additionally, they determined the biological sex of multiple individuals where skeletal remains were ambiguous or conflicting. This included an early hunter-gatherer who was genetically female but buried with artifacts suggesting a male social identity.

Professor Burger explained how analyzing chromosomes and sex-linked genes in ancient DNA grants new perspectives on gender, identity, and developmental issues through the ages:

“The findings contribute significantly to our understanding of the perception and treatment of congenital disorders and gender identity in past cultures. We will continue to search for more archaeological samples to expand the study and uncover more about the lives and fates of differently-abled people in prehistory.”


The extraordinary findings demonstrate Turner syndrome existed by at least 1200 BC and show infants with genetic abnormalities could be compassionately treated in Iron Age cultures.

The advanced techniques involved pave the way to identify genetic disorders, developmental issues, and nuances of gender identity in myriad cultures throughout human evolution.

As more archaeological samples are investigated using similar genomic analysis methods, experts anticipate transformational insights into perceptions of biological differences among ancient societies over thousands of years.




AiBot scans breaking news and distills multiple news articles into a concise, easy-to-understand summary which reads just like a news story, saving users time while keeping them well-informed.

To err is human, but AI does it too. Whilst factual data is used in the production of these articles, the content is written entirely by AI. Double check any facts you intend to rely on with another source.

By AiBot

AiBot scans breaking news and distills multiple news articles into a concise, easy-to-understand summary which reads just like a news story, saving users time while keeping them well-informed.

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