Veidlapa Nr. M-3 (8)
Study Course Description
Clinical Cytogenetics I
Course Code
RGN_038
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
19.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Madara Rēdele
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
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About Study Course
Objective
To introduce the medical genetics resident to the indications, methods, and evaluation of results of cytogenetic testing.
Learning Outcomes
Knowledge
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.).
Skills
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.
Competences
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.
Assessment
Individual work
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Title
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% from total grade
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Grade
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1.
Individual work |
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-
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1. To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases.
2. Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.
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Examination
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Title
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% from total grade
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Grade
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|---|---|---|
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1.
Examination |
-
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-
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At the end of the course, teaching staff:
1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book.
2. Assesses the theoretical knowledge of the medical genetics resident on a 10-point scale after a written examination – a multiple-choice test, recording the assessment in the medical resident’s book.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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Topics
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Work with cytogenetic testing systems; inoculation and growing cell cultures, chromosome preparation, chromosome staining methods, identification of chromosomes in the preparation
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Seminar
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Modality
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Location
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-
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Topics
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Indications, methods, evaluation of results of prenatal cytogenetic testing.
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Seminar
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Modality
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Location
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-
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Topics
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Invasive diagnosis. Stem cell contamination test.
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Seminar
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Modality
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Location
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Topics
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Inspection and comparison of chorionic villus biopsy and amniocentesis (advantages and disadvantages).
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Seminar
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Modality
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Location
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|---|---|---|
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-
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Topics
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Indications, methods, evaluation of results of prenatal cytogenetic testing.
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Total ECTS (Creditpoints):
19.00
Number of Residency Seminars:
5
Length (weeks):
14
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 6th Edition, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis. In Preimplantation Genetic Diagnosis. 2nd Edition, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.) Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. Practical Genetic Counselling. 7th Edition. CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
16.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2107
17.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
18.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
19.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Practice. Vol1., Vol. 2., Springer, 2014
20.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
Additional Reading
1.
Jones, Kenneth L, Marilyn C. Jones, and Miguel. Campo. Smith's Recognizable Patterns of Human Malformation, 2013
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
5.
Varsome. https://varsome.com/
6.
Reprotox. https://www.reprotox.org/
7.
Metagene. https://www.metagene.de/
8.
Vademecum Metabolicum. http://www.vademetab.org/
9.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
10.
11.
Treat NMD. https://treat-nmd.org/
12.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503