Marthe Gautier

Marthe Gautier (born September 10, 1925) is a French medical doctor and researcher. She discovered that Down Syndrome is caused by trisomy 21, the condition of having three copies of the 21st chromosome.^[1][2] Credit for her discovery has frequently been given to Jerome Lejeune, but it is now recognized that this groundbreaking discovery was actually made by her.^[2][3]

Discovery of chromosomal abnormality responsible for Down syndrome

The laboratory cell culture

In 1956, biologists from the University of Lund in Sweden announced that the human species has exactly 46 chromosomes. Raymond Turpin proposed the idea culturing cells to count the number of chromosomes in trisomy. Gautier offered to look into it, thanks to her experience in the United States^[4]. Turpin accepted and Gautier set up the first 'in vitro' cell culture laboratory.

In order to count the chromosomes, Marthe Gautier worked on fibroblasts derived from connective tissue, which were easier to obtain under local anesthesia. The principle of cell culture was simple and Gautier soon confirmed that the protocol worked.

Gautier got connective tissue from a neighbouring surgeon, taken during planned interventions in children. With the help of two technicians, Marthe Gautier managed to cultivate the cells. She used the "hypotonic shock" method^[5] followed by drying the blade after attachment in order to disperse the chromosomes of dividing cells and make them easier to count.

Using this protocol, Gautier found that the cells of normal children have 46 chromosomes. In May 1958, she observed an additional chromosome in the cells of a trisomic boy, the first evidence of chromosomal abnormalities in individuals with Down syndrome. This was in May 1958.

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