History of Down Syndrome

In 1866 he wrote about the features of Down syndrome.  He noticed the shape of the face, the tendency to get infections and that people with Down syndrome were able to learn and are good at copying others. 

In 1961, leading geneticists suggested in the Lancet medical journal that the condition should be called Down’s syndrome to honour Langdon Down, which has since been simplified to Down syndrome 

It took almost a hundred years from Landon Down’s description of Down syndrome to be tied to a cause. 

In 1959, Jerome Lejeune in Paris and Patricia Jacobs in Scotland studied chromosomes and discovered that people with Down syndrome had an extra chromosome 21. It was the first time that a disability and a chromosome disorder had been linked and is now just one of many chromosomal disorders in the world. 

Lejeune believed this information would lead to a cure for Down syndrome.  He was disappointed that instead it led in 1968 to antenatal diagnosis by chromosome analysis and the possibility of aborting babies with Down syndrome.   

Before his death in 1994 he said, “I was the doctor who was supposed to cure them and as I leave, I feel I am abandoning them.”