Snippets—sex-chromosome syndromes in history

Recently, in Communications Biology, Kyriaki Anastasiadou (Francis Crick Institute, London) et al report they have identified aneuploidies (atypical autosomal and sex chromosome karyotypes—that is, something other than XX or XY) in five people buried in Britain over the last 3,000 years, including:1

the oldest known instance of mosaic Turner syndrome dating to the Early Iron Age, three individuals with Klinefelter syndrome, spanning from the Iron Age to the Post-Medieval Period from England, an individual with 47,XYY syndrome in Early Medieval England and an Iron Age infant with Down syndrome.

Anastasiadou, K. et al.

These people would have displayed visibly different physical appearances and/or behaviours and/or health—the woman with Turner would be shorter than average whereas men with Klinefelter tend to be taller, with large hips and breasts—were, as far as it’s possible to tell from their remains, treated no differently than those with the usual binary XX or XY chromosomes. Nature interviewed Anastasiadou along with a couple of other researchers who weren’t part of the team.

There is no evidence that the people were treated differently from those without the syndromes, says Anastasiadou. “There didn’t seem to be anything different about how they died or how they were buried at first glance,” she says.

“This is a major breakthrough and provides us with a window into the perception and treatment of difference in ancient societies,” says anthropologist Bettina Arnold at the University of Wisconsin–Milwaukee. The approach could shed light on what it means to be human, she says.

“The more studies like this are done, the better we can explore how past societies viewed sex and gender, or in the case of certain [genetic syndromes], how disability may have been understood in the past,” says archaeologist Ulla Moilanen at the University of Turku in Finland.

Ancient DNA reveals first known case of sex-development disorder, Nature.com

For me the really interesting part is how surprised those Nature commentators seem to be that people of the Long Ago behaved like, y’know, people: they treated difference with respect; that every person matters. Treating people differently is usually a product of fear—classically and most obviously of disease. But people learn pretty fast that this kind difference-at-birth isn’t contagious, and how can one be afraid of a tiny baby with a sweet smile? Or a toddler you’ve known since she was a baby? Or a young adult (ditto)? Or an old woman? I’ve always believed that our factory setting, what we’re born with, is kindness. It’s our default; it’s something we unlearn. Here in the 21st century, we should take note.

Anastasiadou, K. et al. Detection of chromosomal aneuploidy in ancient genomes. Commun. Biol. 7, 14 (2024). ︎