Day 11: Who Discovered Down Syndrome?

Down Syndrome Awareness Month - Day 11

Who discovered Down syndrome?

In 1866, British physician John Langdon Down first described Down syndrome as "Mongolism". Down published an essay in which he described a set of children with common features who were distinct from other children with mental disabilities. At the time, he was superintendent of an asylum for children with mental disabilities in Surrey, England. Down based his term, Mongolism, on the notion that these children looked like people from Mongolia, who were thought then to have an arrested development.

In the 1960's, this ethnic insult came under fire by Asian genetic researched and the term was dropped from scientific use. In the early 1970's that the term Down syndrome became accepted.

Petrus Johannes Waardenburg, a Dutch ophthalmologist and geneticist, and Dr. Adrien Bleyer were the first people known to have speculated that Down syndrome might be due to chromosomal abnormalities.

In 1959, Jerome Lejeune, a French pediatrician and geneticist, and Patricia Jacobs, a British geneticist, independently determined the cause of Down syndrome to be trisomy of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism were described over the next three years.