STKG7X1a Clinical Genetics-practicals

Faculty of Medicine
Spring 2010
Extent and Intensity
0/1/0. 1 credit(s). Type of Completion: z (credit).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (seminar tutor)
MUDr. Šárka Prášilová (seminar tutor)
MUDr. Jana Šoukalová (seminar tutor)
RNDr. Alexandra Oltová (seminar tutor)
MVDr. Vlasta Linková (seminar tutor)
RNDr. Iveta Valášková, Ph.D. (seminar tutor)
RNDr. Jitka Kadlecová, Ph.D. (seminar tutor)
Ing. Lucia Ráheľová (assistant)
Guaranteed by
prof. Ing. Petr Dvořák, CSc.
Department of Biology – Theoretical Departments – Faculty of Medicine
Prerequisites (in Czech)
STLM0522p Medical Microbiology II-lect. && STIM051p Immunology-lecture && ( VSBC041p Biochemistry II -l || VSBC0422p Biochemistry II -l ) && VSIP0622c Clin.exam.in int.med.-pract.
Course Enrolment Limitations
The course is only offered to the students of the study fields the course is directly associated with.
fields of study / plans the course is directly associated with
Course objectives
The course provides an overview of the methods used in laboratories of clinical genetics including prenatal cytogenetics, postnatal cytogenetics, cytogenetics in oncology, molecular cytogenetics and modern DNA and RNA diagnostic methods. In addition, genetic counseling and selected model case reports are presented to students. The subject matter presented in this course will help to better understand other medical subjects including internal medicine, neurology, surgery etc.
Syllabus
  • Clinical cytogenetics, chromosomal aberrations, prenatal screening, prenatal cytogenetic diagnostics, molecular diagnostics, genetic counseling, syndromology: craniofacial dysmorphies, hereditary abnormalities of sensory organs, congenital neurological disorders, congenital cardiovascular, respiratory, gastrointestinal, urogenital, metabolic, neuromuscular and hematologic disorders.
Literature
  • Základem studia je látka přednášená na přednáškách a probíraná na seminářích a stážích z klinické genetiky a materiály v IS.
  • D.J.Pritchard, B.R.Korf: Základy lékařské genetiky, Galén 2007
  • Nussbaum, Mc Illnes, :Thompson & Thompson: Klinická genetika, 2004
  • Sršeň, Sršňová: Základy klinickej genetiky, Martin 2000
  • Kučerová : Vrozené a získané poruchy lidských chromosomů, 1988
  • HYÁNEK, Josef. Klinické a biochemické aspekty vrozených metabolických poruch. 1. vyd. Praha: Avicenum, 1980, 280 s. info
  • MICHALOVÁ, Kyra. Úvod do lidské cytogenetiky. Vyd. 1. V Brně: Institut pro další vzdělávání pracovníků ve zdravotnictví v Brně, 1999, 172 s. ISBN 8070132817. info
  • Vojtíšková M.: Klinická molekulární genetika, IDVPZ Brno, 1999
  • ŠMARDA, Jan. Člověk v proudu dědičnosti (Geny v lidském zdraví a nemoci) (Man in the stream of heredity). Praha: Grada-Avicenum, 1999, 136 pp. ISBN 80-7169-768-0. info
  • Pokroky v lékařské genetice. Edited by Jan Kapras. 1. vyd. Praha: Avicenum, 1992, 141 s. ISBN 80-85047-10-1. info
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994, 414 s. ISBN 80-85824-04-3. info
Assessment methods
Lessons are mandatory, absence (up to 3 teaching hours) is allowed, for any additional absence(s) student is required to attend parallel seminar with the same topics (following consultation with the instructor) or write a thesis in the length of 1-2 pages (following consultation with the instructor).
Language of instruction
Czech
Further Comments
The course can also be completed outside the examination period.
The course is also listed under the following terms Autumn 2001, Autumn 2002, Autumn 2003, Spring 2004, Autumn 2004, Spring 2005, Autumn 2005, Spring 2006, Autumn 2006, Spring 2007, Autumn 2007, Spring 2008, Autumn 2008, Spring 2009, Autumn 2009.
  • Enrolment Statistics (recent)
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