Publication at Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine |
2019
Abstract
In 2019 we are celebrating 60 years anniversary of important discoveries that linked already known clinical syndromes and cytogenetic findings of numerical chromosomal anomalies. Apart from famous Down syndrome we also learned the chromosomal etiology of Turner and Klinefelter syndrome in 1959 and other discoveries followed in the coming years.
For the first time ever it was possible to confirm the suspected clinical syndromes by targeted laboratory examination. In this area cytogenetics overtook molecular genetics for long decades.