The History of Trisomy 18

When was it discovered?

1960 

Who discovered it?

Edwards, John Hilton, a British geneticists, discovered the disease. He served as a professor of human genetics at Birmingham and at Oxford University and contributed to every aspect of his subject—in population, cytology, and trisomy studies, as well as radiation, blood group, and linkage studies. 

How was it discovered?

It was first recognized as a clinical entity by the discovery of an extra chromosome 18 in babies with a particular pattern of malfunction.

What is Trisomy 18?

It is a rare genetic disorder that causes serious mental impairment and birth defects.

Trisomy 18, also called Edwards syndrome, is a genetic disease correlated with abnormalities in the body. Individuals with trisomy 18 often grow slowly (intrauterine growth retardation) and has a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Many individuals with trisomy 18 die before birth or within their first month.  A rare amount of children with this condition who live past their first year, often have severe intellectual disability.

In a regular conception, 46 chromosomes for each cell with two of each type combined from 23 chromosomes from the father and 23 chromosomes from the mother. In each chromosome, they contain all the needed genetic information, but a trisomy will occur when a genetic problem develops when there are three chromosomes in one position instead of two.