COURSE UNIT TITLE

: CLINICAL CYTOGENETICS

DEGREE PROGRAMMES

Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS
TBG 6110 CLINICAL CYTOGENETICS ELECTIVE 2 4 0 12

Offered By

Medical Biology and Genetics

Level of Course Unit

Third Cycle Programmes (Doctorate Degree)

Course Coordinator

ASSOCIATE PROFESSOR OĞUZ ALTUNGÖZ

Offered to

Medical Biology and Genetics

Course Objective

- To learn the basic cytogenetic concepts and their clinical applications, and to be able to apply basic laboratory procedures.
- To acquire the basic knowledge and ability for recognition of normal human chromosomes and chromosomal aberrations under light microscope.

Learning Outcomes of the Course Unit

1   To be able to explain cell nucleus in terms of structure and function
2   To grasp eukaryotic cell division types in the context of nuclear genome structure and genetic functioning
3   To be able to classify and write chromosomal aberrations according to the nomenclature principles (ISCN)
4   To understand the association of constitutional chromosome anomaly and birth defect (reproductive) risk
5   To understand the association of somatically acquired chromosomal changes with clinical phenotype at categorical level
6   To learn the techniques of molecular cytogenetics and their utilization in clinical diagnosis
7   To learn the effects of structural chromosome aberrations at level of gene structure and expression
8   To acquire the ability to obtain metaphase spreads from various tissues
9   To be able to recognize normal human chromosomes at 550 bands resolution under microscope
10   To understand the principles of light microscopy

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description
1 Presentation of the course program and learning objectives (T) Basic laboratory principles and the policy (P)
2 Presentation of the course program and learning objectives (T) Basic laboratory principles and the policy (P)
3 DNA, chromosomes, cell division and its control (T) Preparation of metaphase spreads from peripheral blood (P)
4 Classification of chromosome abnormalities and cytogenetic nomenclature system, ISCN I (T) Basic microscopy.
5 Classification of chromosome abnormalities and cytogenetic nomenclature system, ISCN II (T) Recognition of group A chromosomes (P)
6 Autosomal aneuploidy (T) Recognition of group B chromosomes (P)
7 Parental Translocations and Reproductive Risk (T) Recognition of group C chromosomes (P)
8 Sex chromosomes and their aberrations (T) Recognition of group D chromosomes (P)
9 Prenatal and spontaneous abortion cytogenetics (T) Recognition of group E chromosomes (P)
10 Prenatal and spontaneous abortion cytogenetics (T) Recognition of group E chromosomes (P)
11 Chromosomal changes in solid tumors (T) - Effects at the molecular level - Significance of detection in diagnosis, prognosis and monitoring FISH Image Analysis (P)
12 Molecular cytogenetics: genomic arrays, MLPA, CGH, SKY-FISH (T) Locus specific probe hybridization and chimeric gene analysis (P)

Recomended or Required Reading

1) Gersen SL, Keagle MB (ed.): "The Principles of Clinical Cytogenetics" 2005 Humana Press Inc.
2) Gardner RJM, Sutherland GR: "Chromosome Abnormalities and Genetic Counseling" 2004 2nd ed.Oxford University Press, Inc.
3) Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/)
4) Various review articles

Planned Learning Activities and Teaching Methods

Assessment Methods

SORTING NUMBER SHORT CODE LONG CODE FORMULA
1 PRF PERFORMANCE
2 FIN FINAL EXAM
3 FCG FINAL COURSE GRADE PO * 0.40 + FN*0.60
4 RST RESIT
5 FCGR FINAL COURSE GRADE (RESIT) PO * 0.40 + BUT*0.60

Further Notes About Assessment Methods

None

Assessment Criteria

To be announced.

Language of Instruction

Turkish

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

Office Ph: 232-412 4605 GSM: 505-635 3435

Office Hours

Two hours in a week

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours)
Lectures 15 2 30
Labratory 15 4 60
Preparation for midterm exam 1 4 4
Preparation for final exam 1 10 10
Preparations before/after weekly lectures 8 4 32
Preparing presentations 15 5 75
before application the preparation 15 5 75
Midterm 1 2 2
Final 1 2 2
TOTAL WORKLOAD (hours) 290

Contribution of Learning Outcomes to Programme Outcomes

PO/LOPO.1PO.2PO.3PO.4PO.5PO.6PO.7PO.8PO.9
LO.112
LO.22
LO.3235
LO.4235
LO.513
LO.63
LO.72
LO.83
LO.93
LO.10

CONTACT INFORMATION
Dokuz Eylül Üniversitesi Cumhuriyet Bulvarı No: 144 35210 Alsancak / İZMİR
Phone: +90(232) 412 12 12 - Fax: +90 (232) 464 81 35

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