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Modern genetic testing stems from a 1950s discovery about the cause of Down syndrome.

Findings

Additional insights we found via Lost Women of Science

  1. Scientists found that an additional copy of chromosome 21 causes the disease and developed an approach to stain chromosomes so they could be manually sorted and counted, which is called karyotyping.

  2. The breakthrough discovery by Marthe Gautier, a young French doctor and cytogenetics researcher, was appropriated by a male colleague, who listed himself as the lead author of the study reporting the finding.

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