1. A diagnosis of RETT syndrome can be suspected in case of:
2. Soto’s syndrome is characterized by:
3. Which tumor is not typical for Von Hippel-Lindau syndrome?
4. Find the false statement about achondroplasia:
5. Dynamic mutations contribute to the development of:
> dynamic mutation is same as "triplett repeat"
6. What are recommendation regarding supplementation of folic acid in prevention of neural tube defects for the general population?
7. A child with terminal deletion spanning the short arm of chromosome 4 was referred to clinical genetics unit. What findings do you expect on physical examination?
8. Macroglossia is typical for