note: this lecture started with a note saying that this is less likely material to be tested in the 3rd year exam… 🤣

ILOs

• know which aspects of clinical history-taking and examination are especially helpful for clinical genetics purposes
• learn about the meaning of the more important and commonly used terminology to describe clinical features observed in genetic conditions
• dysmorphology-related terms such as those mentioned in the lecture e.g. down- slanting palpebral fissures
• understand pre-implantation genetic diagnosis and its advantages and disadvantages
• be aware of testing for genetic disease in the neonatal period (e.g. for cystic fibrosis)

• What comes under the clinical assessment of a patient from a genetic point of view?

Clinical Images

• Is the philtrum normal here?
• Are these hands normal?
• This is a bit more subtle…
• Look at this one…
• Time to look at a toe!

Assessment of Dysmorphology

• Which features should you notice?
• Summary