Analysis of DNA dating back some 2,500 years has led to the discovery of the first person in antiquity who suffered from Turner syndrome, a genetic disorder that causes a person to have one X chromosome instead of two, Live Science reports, citing. Agerpres.

Analysis of his bones showed that this man, who died between the ages of 18 and 22, most likely did not reach puberty. Further examination of the remains revealed that the man had mosaic Turner syndrome, in which some cells have only one X chromosome and others have two.

The study looked at historical DNA collected as part of the One Thousand Ancient British Genomes project, a database of DNA taken from skeletons in Britain. According to the study, published on January 11 in the journal Communications Biology, the team identified a total of six people with sex chromosome abnormalities.

They made these discoveries after developing a computerized method for determining the atypical number of chromosomes in DNA extracted from skeletons. A person with Turner syndrome who died in the early Iron Age (750 BC – 400 BC) probably had a partial absence of the second X chromosome.

How is Turner syndrome manifested?

This condition can often lead to symptoms and characteristics such as shorter than average height, heart defects, and small or absent ovaries, causing fertility problems.

Of the other five people with aneuploidy, or genetic disorders in which a person lacks 46 chromosomes, three people had signs of Klinefelter syndrome, a genetic disorder in which a person has one set of XXY sex chromosomes.

Of these three individuals, one died in the Iron Age (approximately 750 BC – 43 BC), the other in the Classical Middle Ages (1050 BC – 1290 BC . e.), and another one – at the beginning of the 19th century. Klinefelter syndrome often blocks the growth of a person’s testicles, resulting in lower testosterone levels, less muscle mass, less body hair, and more breast tissue than typical XY individuals.

According to the study’s authors, the three skeletons identified as belonging to people with the disease were buried according to the rituals of their time, showing that “their burials did not reveal differences in how they were perceived by contemporaries.”

Exciting findings of a new genetic study

Another early medieval (8th century AD) man had an extra Y sex chromosome, suffering from XYY syndrome. Most people with XYY chromosomes do not differ in physical characteristics from people with XY chromosomes, apart from the fact that they are often taller than average.

Researchers have also identified an Iron Age male child who lived in Britain and had Down syndrome.

The condition can lead to neurodevelopmental problems, and the discovery of skeletons with the syndrome “may provide information about the care provided in ancient societies, as well as how people with these diseases, which have distinctive physical manifestations, were perceived by their peers.” , said a representative of the authors of the study.

Although the number of people with chromosomal differences identified in this study is small, the researchers’ new method allows them to observe genetic diversity to “provide another level of information that can contribute to a more detailed reconstruction of the human past.” wrote research author.