Down Syndrome

Down syndrome is a chromosomal disorder that is caused by an extra 21 chromosome. Down syndrome is a relatively well known genetic disorder as it is very common in our society. About 1 in 1000 births have Down syndrome and approximately 6000 children each year are born with the disorder. These numbers are frighteningly high. People with down syndrome show characteristics including mental retardation, distinguishing facial features and other traits.

Down syndrome has probably been around for as long as humans have been, but it has always been misconceived with other illnesses and was never categorized as an illness on its own. Down syndrome was discovered in 1866 by an English physician named John Langdon Down. His path to the discovery of the disease started while he was working at an asylum for children with mental disorders. He wrote an essay that described a set of children who had common features that were different from the other children with mental retardation. John Langdon Down had referred to these children as mongoloids, because the children with this condition had appeared to look like people from Mongolia. This term was used for a number of years but because of the obvious ethnic insult in this term, it was dropped in the favour of using a more favourable term. This term was of course Down syndrome named after the John Langdon Down.

In the beginning of the twentieth century, there were many different ideas on what was the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s, but it wasn’t until 1959 that Jerome Lejeune who first determined the cause to be trisomy of the 21st chromosome. Jerome Lejeune made a karyotype using the cells from someone with the syndrome to discover the extra genetic material. This discovery made by Jerome Lejeune influenced him to spend his time searching for a cure for this genetic disorder. “It would take less effort to find a cure for Down syndrome than to send a man to the moon.”