Important notice
The course guide is provisional.
The PDF version of the course guide may take a few days to become available in the DDD.
Clinical Cytogenetics
Code: 42943Credits: 6
| Degree programme | Type | Course |
|---|---|---|
| Cytogenetics and Reproductive Biology | OP | 1 |
Contact lecturer
- Name :
- Maria Angels Rigola Tor
- Email :
- mariaangels.rigola@uab.cat
Teaching staff
- Ariadna Delgado Bermudez
Teaching staff (external to UAB)
- Alberto Plaja Rustein
- Miriam Guitart Feliubadaló
Group languages
You can consult this information at the end of the document.
Prerequisites
The study indicated for this Masters.
Objectives
- Updating knowledge of the latest advances in cytogenetics and clinical genetics which offer an accurate diagnosis of hereditary diseases.
- Relating chromosomal alteration associated with the phenotype.
- Knowing the critical chromosomal regions associated with the most common hereditary diseases.
- Understanding the basis of genetic counseling and how to calculate risk offspring of inherited diseases affecting carriers of chromosomal alterations.
- Identify the advantages and disadvantages of each method of prenatal diagnosis (invasive and noninvasive).
Learning outcomes
- CA09 (Propose, with scientific criteria, an adequate diagnosis and prognosis in clinical cases in the field of clinical cytogenetics, integrating the interpretation of cytogenetic and molecular findings.) Propose, with scientific criteria, an adequate diagnosis and prognosis in clinical cases in the field of clinical cytogenetics, integrating the interpretation of cytogenetic and molecular findings.
- CA10 (Critically integrate the knowledge acquired in order to develop original ideas or proposals in the field of clinical cytogenetics, particularly in research contexts, whilst always acting with ethical and professional responsibility within the current legislative framework.) Critically integrate the knowledge acquired in order to develop original ideas or proposals in the field of clinical cytogenetics, particularly in research contexts, whilst always acting with ethical and professional responsibility within the current legislative framework.
- CA11 (Communicate the conclusions of work related to clinical cytogenetics, as well as the knowledge supporting them, in a clear, well-argued and unambiguous manner, adapting the discourse to expert and amateur audiences.) Communicate the conclusions of work related to clinical cytogenetics, as well as the knowledge supporting them, in a clear, well-argued and unambiguous manner, adapting the discourse to expert and amateur audiences.
- KA13 (Identify the cellular, cytogenetic and molecular foundations of human pathologies associated with chromosomal abnormalities in the clinical setting.) Identify the cellular, cytogenetic and molecular foundations of human pathologies associated with chromosomal abnormalities in the clinical setting.
- KA14 (Identify cryptic genetic changes detected by new technologies and their involvement in chromosomal pathologies.) Identify cryptic genetic changes detected by new technologies and their involvement in chromosomal pathologies.
- SA13 (Apply critical reasoning and scientific method to solve clinical diagnostic problems in the field of clinical cytogenetics.) Apply critical reasoning and scientific method to solve clinical diagnostic problems in the field of clinical cytogenetics.
- SA14 (Solve clinical cases of prenatal and postnatal diagnosis, applying the clinical and genetic knowledge necessary to interpret results and prepare the diagnostic report.) Solve clinical cases of prenatal and postnatal diagnosis, applying the clinical and genetic knowledge necessary to interpret results and prepare the diagnostic report.
- SA15 (Interpret articles or scientific results in the field of clinical cytogenetics.) Interpret articles or scientific results in the field of clinical cytogenetics.
Contents
Unit 1: Clinical cytogenetics. Clinical consequences of germ and somatic abnormalities. Individuals mosaics. Frequency in population. Detection of chromosomal abnormalities in the population. Origin of numerical abnormalities and structural anafásica loss and non-disjunction.
Chromosomal breakage.
Theme 2: Frequent chromosomal pathologies. General characteristics and associated clinical features. Deletion and trisomy viable human species. Autosomal chromosome abnormalities. Changes in sex chromosomes. Molecular.
Regions criticism genotype-phenotype correlation.
Item 3: Structural alterations. Balanced alterations. Risk progeny in carriers. Translocations and invertions. Alterations frequently unbalanced. Marker chromosomes. Syndromes associated with microdeletions and microduplicacions.
Item 4: Genetic Counselling and Prenatal Genetic Diagnosis. Genetic counseling. Directions to perform prenatal diagnosis. Methods of Prenatal Diagnosis: invasive and noninvasive. Miscarriages in the first trimester.
Item 5: Introduction to the application of new technologies in the postnatal genetic study. The arrays-CGH and Optical Genomic Mapping, the new benchmarks of diagnostic technology and genetic analysis in the field of intellectual disability and congenital malformations.
Item 6: Speciality in Medical Genetics. Organization of Clinical Genetics at the state level. Access to the speciality. Medical Genetics Services . Database of Human Genetics online. Interrelation of inter-hospital services. Reference centers
Learning activities and methodology
| Title | Hours | ECTS | Learning outcomes |
|---|---|---|---|
| Identify alterations in the human karyotype and clinical consequences | 8 | 0.32 | KA13, SA13, SA14 |
| Working together to resolve issues in genetic counseling and risk calculation in offspring affected by hereditary diseases | 8 | 0.32 | CA09, CA10, CA11, SA15 |
| Deevelopment and integration of knowledge work | 60 | 2.4 | CA09, CA10, CA11, KA13, KA14, SA13, SA14, SA15 |
| Written and Oral Work | 4 | 0.16 | CA09, CA10, CA11, KA13, KA14, SA13, SA14, SA15 |
| autoevaluation | 10 | 0.4 | CA10, CA11, SA14, SA15 |
| lectures | 30 | 1.2 | CA09, CA10, CA11, SA15 |
1. Classes with theoretical support of ICT.
2. Self-evaluation exercises of the module contents.
3. Personal Work: each student has to work on a specific subject module (oral presentation and manuscript)
Assessment
Continuous assessment activities
| Title | Weight | Hours | ECTS | Learning outcomes |
|---|---|---|---|---|
| Presentation and defense cytogenetics work | 60% | 2 | 0.08 | CA09, CA10, CA11, SA13, SA14, SA15 |
| Review multiple-choice exam | 30% | 1 | 0.04 | CA09, CA10, CA11, KA13, KA14, SA13, SA14, SA15 |
| Active participation in class discussions | 10% | 27 | 1.08 | CA09, CA11, SA14, SA15 |
Evaluation System
The competences of this course will be evaluated through participation in class, preparation of works and implementation review.
The evaluation is individual:
1. Continuous Assessment for active participation and discussions in class: 10% final.
2. Examination multiple-choice exam (options 4/1 correct, penalty 1/3): 30% of final.
3. Presentation and defense of a work related on cytogenetics: 60% final.
- Oral presentation. Its important to answer the questions raised by colleagues and teachers: 30% of final grade.
- Written presentation. It will be necessary for the work to show the improvement comments made during the oral presentation : 30% final.
4. Recovery exam ( 50% multiple-choice exam- 50% exposition and written presentation).
Remember that class attendance is mandatory. Attendance is a required condition. If you do not meet the minimum number of face-to-face hours, the platform will directly register a lower grade and in serious cases a negative result (Fail) will be applied, regardless of whether the few tasks submitted were approved.
Students will obtain the grade of Not Assessable when all of the assessment activities carried out have a weight of less than 67% of the final grade.
Single assessment
Students taking this subject will not be able to take part in the single assessment system.
For this subject, the use of Artificial Intelligence (AI) technologies is allowed exclusively in [support tasks, such as bibliographic or information search, text correction or translations], problem solving and clinical cases. The student must clearly identify which parts have been generated with this technology, specify the tools used and include a critical reflection on how these have influenced the process and the final result of the activity. The lack of transparency of the use of AI in this assessable activity will be considered a lack of academic honesty and may lead to a partial or total penalty in the grade of the activity, or greater sanctions in serious cases.
Any irregularity in an assessment act (academic fraud, plagiarism or improper use of AI, unless this use is expressly authorized in the teaching guide), which may lead to a significant variation in the grade, means that this act will be graded with a 0. In the event that the teaching guide provides that in order to pass the subject it is an essential requirement to have obtained a minimum grade in this assessment act or that several irregularities occur in the assessment acts of the same subject, the final grade for this subject is 0. Apart from this, a disciplinary process may be initiated against the student who incurs any of these irregularities.
Bibliography
Books:
- Genetics and Genomics in Medecine. Strachan et al. (2015). Ed Garland Science.
- Human Genetics and Genomics. Korf BR (2012). Ed Willey-Blackwell, 4th ed.
- Genética Humana. Fundamentos y aplicaciones en Medicina. Solari AJ (2011). Ed Médica Panamericana, 4ª ed.
- Genética Médica. Jorde LB (2016). Ed Elsevier, 5ª ed.
- New Clinical Genetics. Read and Donnai (2010). Ed Scion Publishing Ltd, 2nd ed.
- Human Genetics: Concepts and applications. Lewis R (2010). Ed McGraw-Hill International, 9nd ed.
- Elementos de Genética Médica. Emery et al. (2009). Ed. Elsevier,13ª ed.
- Genética en Medicina. Thompson and Thompson (2016). Ed Elsevier, 8ª ed.
- Human chromosomes. Miller and Therman (2001). Ed Springer, 4th ed.
- Genetics of complex desease. Donalson et al (2016). Ed Garland Science.
- Chromosome abnormalities and Genetic Counseling. Gardner and Sutherland (2011) Ed Oxford University Press.
- Human cytogenetics : constitutional analysis : a practical approach. Rooney and Czepulkowski (2001) Ed Oxford University Press (3rd ed).
- ISCN. An International System for Human Cytogenetic Npmenclature (2020) McGowan-Jordan, Simons and Schmid (2016). Ed Karger.
- Cancer Cytogenetics: Chromosomal and Molecular Genetic Abberations of Tumor Cells. Felix Mitelman (2011). Ed Wiley Blackwell.
-Protocolos.Sociedad Española de Genética (SEG)
PubMed http://www.kumc.edu/gec/prof/cytogene.html
Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
Orphanet http://www.orpha.net/consor/cgi-bin/home.php?Lng=ES
Genetics Home Reference http://ghr.nlm.nih.gov/ghr/page/Home
Cytogenetic Resources http://www.kumc.edu/gec/prof/cytogene.html
University of Wisconsin http://www.slh.wisc.edu/wps/wcm/connect/extranet/cytogenetics
Additional documentation is available on the Virtual Campus
Software
Application software is the set of programs that allow document management, data processing, digital image retouching, Internet browsing ... etc. The application software can be grouped into the following sections:
Word processors: allow the creation of documents with the integration of text, data and images. Examples: Word, WordPad ...
Databases: they allow the processing of large amounts of information and facilitate subsequent consultation. Example: Access.
Spreadsheets: allow the processing of data, but in this case numerical, and the performance of mathematical calculations. Example: Excel.
Communication programs: allow communication through computer networks. You can browse the Internet, send an email ... Examples: IE, Browser, Messenger, Outlook, Eudora ...
Graphic design: they allow the realization and digital treatment of drawings, plans and photographs. Examples: AutoSketch (technical drawing), Paint (drawing), Paint Shop Pro (image processing) ...
Multimedia creation programs: allow you to integrate text, graphics, sound and animations, and create interactive documents. Examples: Flash, PowerPoint ... and the list of programs could go on with file compressors, MP3 players ... and a long and so on.
Diagnostic software:
Is the set of programs that allow you to configure and check the correct operation of all the hardware elements of a computer system.
Course groups and languages
The information provided is provisional until November 30. After this date, you will be able to consult the language of each group through this link. To access the information, you will need to enter the course CODE
| Type of teaching | Group | Language | Semester | Shift |
|---|---|---|---|---|
| (TEm) Theory (master) | 1 | Catalan | first semester | morning-mixed |
| (PAULm) Classroom practices (master) | 1 | Catalan | first semester | morning-mixed |