Clinical Genetics 1

Mode of Delivery

Face to Face

Prerequisites and Co-Requisites

None

Recommended Optional Programme Components

Medical genetics

Course Contents

Choromosomal disorders, trisomi 21 Choromosomal disorders trisomi 13, 18, Sex choromosome anomalies Choromosomal Imprinting disorders Diagnosis of Congenital metabolic disorders Carbohydrate metabolizm disorders

Weekly Schedule

1) Diseases showing Mendelian inheritance of the input
2) Autosomal recessive inheritance and disease-1
3) Autosomal recessive inheritance and disease-2
4) Autosomal dominant inheritance and disease-1
5) Autosomal dominant inheritance and disease-2
6) X-linked inheritance and diseases
7) Genetic disease characterized by short stature
8) Midterm examination/Assessment
9) Genetic disorders associated with mental retardation-2
10) Genetics of epilepsy
11) Lysosomal storage diseases
12) Common chromosomal disorders
13) Principles of genetic counseling in single gene disorders
14) Case Report
15) Case Report
16) Final examination

Recommended or Required Reading

1- medikal genetik

Planned Learning Activities and Teaching Methods

1) Lecture
2) Question-Answer
3) Discussion
4) Group Study
5) Lab / Workshop

Assessment Methods and Criteria

Contribution of Semester Studies to Course Grade	30%
Number Percentage Semester Studies Midterm Examination 1 60% Practices 1 40%
Contribution of Final Examination to Course Grade	70%
Total	100%

Language of Instruction

Turkish

Work Placement(s)

Not Required