UNIVERSITY OF SANTO TOMAS FACULTY OF PHARMACY DEPARTMENT OF MEDICAL TECHNOLOGY Amiel Joshua C. Aguilar 2HMT Formative Assessment Cytogenetics 1. Give at least 2 importance of Cytogenetics? Cytogenetics is a significant component in detecting and diagnosing chromosomal abnormalities like Kleinfelter syndrome, Trisomy X, and many more. Furthermore, Cytogenetics can be used to diagnose illnesses like cancer. Through Cytogenetics, we can plan methods of treatment and their effectiveness. Lastly, through Cytogenetics, we understand genetic abnormalities and issues. 2. What Cytogenetic techniques have allowed the Scientists to see the 46 chromosomes? In 1923 Theophilus Painter had a rough but close estimate of 48 chromosomes in human cells. Painter concluded this through his experiments in counting the chromosomes in a tissue sample stained with iron hematoxylin. During the 1950s, Colchicine was found to be helpful in suspending the cells in the metaphase state. Then in 1956, Tijo and Levan discovered that human cells have 46 Chromosomes through Karyotyping with Colchicine. The difference between Tijo and Levan’s experiment from Painter’s is that Tijo and Levan used a metaphase spread with Colchicine to determine the chromosome count more clearly without any overlap. 3. What lead to the rapid development of the Human Cytogenetics? The rapid development of Human Cytogenesis is through introducing new technology and innovations. With the latest technology, old techniques have been developed to become more sensitive and continuously identify smaller and harderto-see chromosomal aberrations linked to diseases.