Clinical Cytogenetics I (RGN_038)
About Study Course
Objective
To introduce the medical genetics resident to the indications, methods, and evaluation of results of cytogenetic testing.
Learning outcomes
1.- Requirements for cytogenetic testing material (peripheral blood, foetal blood, amniotic fluid, chorionic villus bioptate, skin bioptate) in prenatal and postnatal genetic diagnosis.
- Indications for cytogenetic testing in prenatal and postnatal genetic diagnosis.
- Short-term and long-term cell cultures.
- Making chromosome preparations from different tissues.
- Chromosome staining methods (GTG, CBG, NOR).
- Causes and mechanisms of chromosomal aberration formation, frequency of occurrence in the population and role in human pathology. Types of constitutional (inherited) chromosomal aberrations (changes in the number and structure of chromosomes).
- Aetiology of the most common chromosomal aneuploidy syndromes, clinical manifestations thereof and genetic counselling.
- Uniparental disomy and imprinting (mechanisms of formation, the most common syndromes).
- Chromosomal norm variants, fragile sites.
- International System for Human Cytogenomic Nomenclature (ISCN).
- Chromosomal instability syndromes.
- Theoretical and empirical calculations of the risk of recurrence in case of different chromosomal aberrations.
- Specifics of prenatal examinations (interpretation of mosaicism findings, etc.).
1.- Culturing of blood lymphocytes, skin fibroblasts, amniotic fluid, chorionic villi.
- Obtaining chromosome preparations (fixation of cell cultures).
- Chromosome preparation staining (GTG, CBG, NOR).
- Microscopic analysis of chromosomes with an optical microscope (identification of chromosomes and their changes in the microscope).
- Using digital chromosome analysis software for karyotyping.
- Able to describe the chromosomal changes detected according to the International System for Human Cytogenomic Nomenclature (ISCN) in prenatal and postnatal genetic diagnosis.
- Calculations of the risk of recurrence in case of different chromosomal aberrations.
1.- Purposefully prescribes cytogenetic tests and advises physicians of other specialties on the most optimal cytogenetic tests for the clinical situation in prenatal and postnatal genetic diagnosis.
- Advises health care specialists on the correct collection and transportation of testing material to the laboratory.
- Performs karyotype analysis in the diagnosis of constitutional (inherited) chromosomal changes.
- Interprets the results of the karyotype analysis in relation to the clinical situation.
- Able to provide genetic advise to the patient and their family in case of hereditary chromosomal changes.
