Information Package

Ph.D. on Medical Genetics

GEN623

DISMORPHOLOGY

Course Code
GEN623
Semester
-
Theory+Practice
2 + 0
ECTS
10
Course TypeElective Course
Course LevelDoctorate Of Science
Year of Study-
Semester-
ECTS10
Name of Lecturer(s)
Learning Outcomes

At the end of this course, the students;

  1. Knows the mechanisms underlying dismorphic features
  2. Knows the basic knowledge on patient consultancy,
  3. Knows flow diagrams of diagnosis
Mode of DeliveryFace to face
PrerequisitesNo
Recommended Optional Programme Components
Course DescriptionDismorphology is one of the sub disciplines of medical genetics, and it requires detailed evaluation, examination and diagnosis of patients as well as the mechanisms underlying dismorphology. In this perspective, students are expected to have basic knowledge on patient consultancy, flow diagrams of diagnosis request, and the genetics mechanisms underlying the dismorphologic traits.
Course Contents Dismorphology is one of the sub disciplines of medical genetics, and it requires detailed evaluation, examination and diagnosis of patients as well as the mechanisms underlying dismorphology. In this perspective, students are expected to have basic knowledge on patient consultancy, flow diagrams of diagnosis request, and the genetics mechanisms underlying the dismorphologic traits.
Recommended or Required Reading1. Smith's Recognizable Patterns of Human Malformation. Jones K., Jones M., del Campo M., Saunders, Saunders Elsevier, Philadelphia, PA (2013).
2. Thompson &Thompson Genetics in Medicine 8th Edition, Nussbaum R.L., McInnes R.R., Willard H.F., Saunders Elsevier, Philadelphia, PA (2016).
Planned Learning Activities and Teaching Methods
  • Lecture
  • Discussion
  • Questions/Answers
  • Case Study
  • Problem Solving
  • Presentation
Assessment Methods and Criteria
Quantity Percentage (%)
Mid-term 1 50
Total(%) 50
Contribution of In-term Studies to Overall Grade(%) 50
Contribution of Final Examination to Overall Grade(%) 50
Total(%) 100
ECTS Allocated Based on Student Workload
Activities Quantity Duration (Hour) Total Workload (Hour)
Midterm exam 1 2 2
Preparation for Quiz 2 3 6
Individual or group work 14 5 70
Preparation for Final exam 1 30 30
Course hours 14 3 42
Preparation for Midterm exam 1 20 20
Laboratory (including preparation)
Final exam 1 2 2
Homework 4 32 128
Total Work Load300
Total Work Load / 30 (h)10
ECTS Credit of the Course10
Language of InstructionTurkish
Work Placement(s)No
LO1 LO2 LO3
K1 X X X
K2 X
K3 X
K4 X
K5 X X X
K6 X
K7 X X X
K8 X X X
K9 X X X