Cytogenetics

Recommended Prerequisites

Basic knowledge of biology, biochemistry of the pre-graduate cycle in the context of biomedical sciences.

Teaching Methods

For the lectures it will be used powerpoint presentations, handouts/articles/or other material that teachers understand to be best suited with the theoretical contents concerning cytogenetics; the clinical and the cytogenetic bases of other mechanisms involved in genetic diseases.

The test will be carried out in accordance with specific pedagogical objectives of the module and the number of questions will be representative of the importance of the subject to be assessed.

Learning Outcomes

Analyse the theoretical concepts of conventional cytogenetics through the themes: chromosomes, normal cell division (meiosis and mitosis)

Describe the biological mechanisms associated with numerical and structural chromosome changes (balanced and unbalanced), methods of analysis of chromosomes in diagnosis of: cancer, pre-and postnatal developmental pathologies, including chromosome syndromes.

Analyse the use of the database for Cytogenetics.

Describe and analyse the nomenclature used in cytogenetics (International System Cytogenetics Nomenclature)

Analyse and interpret results and do the correlation genotype-phenotype.

Describe and analyse the concepts of mosaicism, quimerism and marker chromosomes: mechanisms of formation, evaluation of methodologies used and the correlation genotype-phenotype.

Identify human chromosomes in metaphase.

Analyse the technologies and methods in conventional Cytogenetics: cell culture, harvesting, spreading, banding and  karyotype.

Work Placement(s)

No

Syllabus

General principles of cytogenetics

History and its impact in the clinical diagnosis 

Chromosomes, cell division (mitosis and meiosis) 

Biological mechanisms involved in the formation of chromosomic alterations: Numerical, unbalanced and balanced chromosomic alterations, risks of recurrence and familial implications. 

Fundamentals of laboratory techniques used in cytogenetics including: culture, harvest, spreading and banding of chromosomes

Frequent chromosome syndromes: description syndromes, mechanisms of formation and the relationship with the mechanisms of cell division

Databases, interpretation of results and the relationship to the phenotype.

Nomenclature in cytogenetics: International System Cytogenetics Nomenclature. What it means, How to use it, how to interpret a karyotype nomenclature 

Identification of human chromosomes on a metaphase picture

Mosaicism, quimerism and marker chromosomes

Resolution of case problems.

Head Lecturer(s)

Isabel Maria Marques Carreira

Assessment Methods

Assessment
Presentation of a theme or discussion of a problem case in the field of human genetics, being evaluated the content, communication skills and teamwork: 20.0%
The evaluation can involve various formats (multiple questions, or other types: 80.0%

Bibliography

R.J.M McKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics) 4th Edition ISBN-13: 978-0195375336
Albert Schinze. Catalogue of Unbalanced Chromosone Aberrations in Man Revised Edition l ISBN-13: 978-3110116076
An International System for Human Cytogenomic Nomenclature (2016) ISBN: 978-3-318-05857-4
Artigos científicos originais e de revisão, no âmbito dos temas em discussão.