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

PROFESSOR DOCTOR 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 PRF * 0.40 + FIN*0.60
4 RST RESIT
5 FCGR FINAL COURSE GRADE (RESIT) PRF * 0.40 + FCGR*0.60


*** Resit Exam is Not Administered in Institutions Where Resit is not Applicable.

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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