Down syndrome, Edwards syndrome found in ancient individuals

News Excerpt:

Researchers have discovered chromosomal disorders in prehistoric skeletal remains dating up to 5,500 years old, including six cases of Down syndrome and one case of Edwards syndrome.

About the news:

  • Almost 10,000 genomes from ancient human skeletal remains from either Ireland, Bulgaria, Greece, Spain or Finland were screened for chromosomal trisomies.
  • According to the paper published in the journal Nature Communications, the findings may represent the first time Edwards syndrome has been identified from historic or prehistoric remains.
  • There have only been a few documented cases of Down syndrome in ancient individuals.
    • Three cases of trisomy 21 [Down syndrome], and the case of trisomy 18 [Edwards syndrome] were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies.

Down syndrome:

  • It is a genetic condition in which a person has an extra copy of chromosome 21. In some cases, they may have an extra copy of part of the chromosome.
    • Chromosomes are tiny "packages" in cells that contain genes. Genes carry information, called DNA, that controls what one looks like and how one’s body works.
  • Having an extra copy of a chromosome is called trisomy. So sometimes Down syndrome is also called trisomy 21.
    • This extra copy changes how a baby's body and brain develop. It can cause both mental and physical challenges during their lifetime.
  • Down syndrome is usually not inherited. It happens by chance, as an error when cells are dividing during the early development of the fetus.
  • There’s no cure for Down syndrome, but treatment is available to help the child reach their full potential.

Edwards syndrome:

  • It is a genetic disorder in which a person has a third copy of material from chromosome 18 instead of the usual 2 copies. Hence also called Trisomy 18.
  • Most cases are not passed down through families (not inherited). Instead, the problems that lead to this condition occur in either the sperm or the egg that forms the foetus.
  • Trisomy 18 occurs in 1 in 6000 live births. It is 3 times more common in girls than boys.
  • There are no specific treatments for trisomy 18. 
    • Treatment will focus on the symptoms of the condition, such as heart conditions, breathing difficulties and infections.

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