Description of Edwards syndrome (trisomy 18)
Descripción del síndrome de Edwards (trisomía 18)
- Date
- 1960 · confidence high
- Place
- Birmingham, England, United Kingdom
- Credited to
- John H. Edwards, with David Harnden, Arthur Cameron and colleagues
- Field
- Life & health
What was discovered
Edwards and his team described in 1960 a new syndrome linked to an extra chromosome, initially wrongly attributed to chromosome 17; shortly after it was confirmed to be a trisomy of chromosome 18. It is the second most common autosomal trisomy at birth, after Down syndrome.
Klaus Patau and Eeva Therman reported additional cases at nearly the same time, which helped correct the initial chromosome assignment.
What it led to
- Development of prenatal diagnostic techniques (amniocentesis, ultrasound)
Built on
- Cytogenetic and karyotyping techniques