The Oldest Case of Down Syndrome in the World Found in 6,000-Year Old Irish DNA | EasyDNA South Africa

What a group of geneticists from Trinity College in Dublin stumbled upon at a Megalithic tomb in Ireland just might provide us a glimpse into the oldest case of Down syndrome in the world.

A team led by Dr. Lara Cassidy, an ancient geneticist at Trinity College, had an unexpected discovery at Poulnabrone, a megalithic tomb in the Burren in County Clare, when they found the remains of a 6-month old baby boy. What makes the remains of this boy remarkable is the fact that the team found three copies of Chromosome 21 in him, which means he would have had Down syndrome.

Dr. Cassidy’s research team estimates the remains to be between 4,000 and 6,000 years old, making it the oldest case of Down syndrome in the world.

The team of researchers isolated DNA from the bone fragments they found at the ancient site by powderizing the petrous temporal bone and putting the powder in solution, hoping that the DNA would be from the individual and not from bacteria in the environment.

The team described the boy to have a skull and eyes of a distinctive size and shape that is consistent with other children with Down syndrome. While the child possibly died at the tender age of 6 months, Dr. Cassidy argued that the infant was breastfed and well taken care of, as published in her research paper in the National Scientific Journal in June.

Aside from discovering evidence of Down syndrome, the research team also discovered evidence of first-degree incest at the megalithic structure at Negrangre in County Meath. They were able to tell that his parents were either full siblings or parent and child, making him the product of first-degree incest.

Dr. Cassidy explained that while incest is taboo now and even throughout human history, royal families were known to have interbred to keep power within the kin. She added that royals and elites also often used to keep themselves separate from the general public as a tool to legitimize their power and intensify hierarchy.

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