Kocaeli University / European Credit Transfer System (ECTS)

Name of Lecturer(s)

Prof. Dr. Emel ERGÜL
Prof. Dr. Mehmet Doğan GÜLKAÇ
Prof. Dr. Murat KASAP

Learning Outcomes of the Course Unit
Program Competencies-Learning Outcomes Relation

Learning Outcomes of the Course Unit

1) Describe the aethiopathophysiology of genetical disorders in man
2) Evaluate the single gene diseases in man with respective mechanisms
3) Evaluate the chromosomal disorders in man with respective mechanisms
4) Explain the chromosomal basis of genetic disorders
5) Evaluate the mechanism of inheritance, maternal inheritance

Program Competencies-Learning Outcomes Relation

Program Competencies

Learning Outcomes

Low

No relation

Mode of Delivery

Face to Face

Prerequisites and Co-Requisites

None

Recommended Optional Programme Components

Medical Genetics and Chromosomal Disorders in Human II

Course Contents

Candidates are provided with in-depth knowledge on Autosomal chromosomal disorders: Down syndrome,Trisomy 18,Trisomy 13; autosomal deletion syndromes: Cdi du cat syndrome,microdeletion syndromes; Sex chromosomes, X chromosome, Y chromosome, sex chromosome disorders: Klinefelter syndrome, 47, XYY syndrome, Trizomy X,Turner syndrome;disorders of gonadal and sexual development,prenatal diagnosis.

Weekly Schedule

1) Chromosomal Disorders, Aneuploidy, Polyploidy
2) Mosaicism, Chimaerism, Translocations
3) Neurogenetics, Neurovascular Diseases, Neurodegenerative Diseases
4) Cardiovascular Diseases
5) Immuogenetics
6) Genetics of Hemoglobins, Hemoglobinopathies, Blood Groups, MHC, Transplantation Genetics
7) Amniosyntesis, Prenatal Diagnosis, Chronic Villus Sampling, Cordosyntesis
8) Midterm Examination/Assessment
9) Prenatal Screening, Neonatal Screening, Carrier Determination, Population Screening
10) Genetics of Common Diseases, Metabolic Diseases
11) Monogenic Disorders, Multigenic Disorders, Cancer Genetics
12) Congenital Malformations, Developmental Genetics, Mitochondrial Disorders
13) Population Genetics, Consanguinity, Prevention and Treatment
14) Genetic Counseling, Human Gene Therapy
15) Genetic Counseling, Human Gene Therapy
16) Final Examination

Planned Learning Activities and Teaching Methods

1) Lecture
2) Question-Answer
3) Discussion

Assessment Methods and Criteria

Contribution of Midterm Examination to Course Grade	50%
Contribution of Final Examination to Course Grade	50%
Total	100%

Language of Instruction

Turkish

Work Placement(s)

Not Required

Course Unit Title	Course Unit Code	Type of Course Unit	Level of Course Unit	Year of Study	Semester	ECTS Credits
Medical Genetics and Chromosomal Disorders In Human II	TBG709	Elective	Doctorate degree	2	Fall	6