Degree | Type | Year | Semester |
---|---|---|---|
4313782 Cytogenetics and Reproductive Biology | OT | 0 | 1 |
The study indicated for this Masters.
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: 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
Note: Unless the requirements enforced by the health authorities demand a prioritization or reduction of these contents
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)
Note: The proposed teaching methodology may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.
Title | Hours | ECTS | Learning Outcomes |
---|---|---|---|
Type: Directed | |||
Identify alterations in the human karyotype and clinical consequences | 8 | 0.32 | 1, 5, 9, 4, 6, 8, 13, 7, 10, 2, 3, 11, 12 |
Working together to resolve issues in genetic counseling and risk calculation in offspring affected by hereditary diseases | 8 | 0.32 | 1, 5, 4, 6, 8, 7, 10, 2, 12 |
lectures | 30 | 1.2 | 1, 6, 8, 7, 10, 2, 3, 11 |
Type: Supervised | |||
Written and Oral Work | 4 | 0.16 | 1, 9, 4, 13, 7, 10, 2, 3, 11, 12 |
Type: Autonomous | |||
Deevelopment and integration of knowledge work | 60 | 2.4 | 1, 9, 13, 7, 10, 2, 11, 12 |
autoevaluation | 10 | 0.4 | 4, 6, 8, 7, 10, 3 |
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 test (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% text- 50% exposition and written presentation).
Remember that class attendance is mandatory.
Note: Student’s assessment may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.
Title | Weighting | Hours | ECTS | Learning Outcomes |
---|---|---|---|---|
Active participation in class discussions | 10% | 27 | 1.08 | 9, 6, 7, 10, 2, 3, 11 |
Presentation and defense cytogenetics work | 60% | 2 | 0.08 | 1, 5, 4, 13, 11, 12 |
Review test | 30% | 1 | 0.04 | 1, 5, 6, 8 |
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 (2016) McGowan-Jordan, Simons and Schmid (2016). Ed Karger.
- Cancer Cytogenetics: Chromosomal and Molecular Genetic Abberations of Tumor Cells. Felix Mitelman (2011). Ed Wiley Blackwell.
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