Earliest Cases of Genetic Syndromes Identified

January 16, 2024

Researchers have uncovered the most ancient known instances of individuals with sex chromosome syndromes, dating back roughly 5,000 years. The findings indicate people with extra or missing chromosomes have existed through human history.

Genetic syndromes often confer distinct appearances and traits compared to general populations. Studying ancient people with chromosomal differences can shed light on how past societies potentially treated those viewed as anomalies.

Combining archeology and genomics enables tracing both the lives and underlying genetics of ancient individuals with rare syndromes.

Infant With Down’s Syndrome Traced to 5,000 Years Ago

Employing DNA sequencing, the scientists found an infant with Down’s syndrome (caused by an extra copy of chromosome 21) lived around 5,000 years ago during the Late Neolithic period.

The identification represents the earliest discovered case of Down’s syndrome, a common chromosomal disorder leading to intellectual disability today.

Female With Turner’s Syndrome Dated to Iron Age

The team also detected the first prehistoric individual with Turner’s syndrome, a condition where females possess just one X chromosome instead of two. The woman lived roughly 2,500 years ago during British Iron Age.

Turner’s manifests as short stature and infertility in females. Identifying an ancient case reveals this disorder’s presence across eras.

Medieval Male Case of Jacob’s Syndrome

Additionally, analysis uncovered a Medieval male with Jacobs’ syndrome caused by having an extra Y chromosome. Lived around 1,100 years ago, his stature would have been taller than average.

The Y chromosome confers male sex. Extra copies often result in boosted growth, indicating biological impacts enduring over centuries.

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