The laboratory notebook begun by Dr. Lejeune on July 10, 1957 indicates that on May 22, 1958, he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome. This was only two years after Tjio and Levan had proven that the human species has 46 chromosomes. In July 1958, Dr. Jérôme Lejeune was studying chromosomes linked to Down syndrome; he discovered the existence of an additional chromosome on the 21st pair. This was only two years after Tjio and Levan had proven that the human species has 46 chromosomes. With this remarkable and ground-breaking discovery, he renamed the condition trisomy 21 to accurately describe the genetic abnormality.
The discovery opened up an enormous field of investigation for modern genetics and laid the foundation for a new discipline: cytogenetics. Until then, the laws of human heredity had been unable to explain Trisomy 21 and other anomalies in hereditary material. Jérôme Lejeune was now driven by a single ambition: to find a treatment that would bring relief to his patients as quickly as possible.
No comments:
Post a Comment