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The occurrence of chromosomal aberrations in the Czech Republic
LANDOVÁ, Ivana
The objektive of this bachelor's thesis was to describe the occurrence of chromosomal aberrations in the Czech Republic and to verify whether the literary data agree with the current occurrence rates. This thesis consist of 2 parts: The theoretical part of the thesis describe phenotypic symptoms and signs of chromosomal aberrations, their origin, causes and occurence rates in the population as reported in the literature. In the practical part, I tried to verify these occurrence rates of the aberrations based on results of investigations (both prenatal and postnatal) provided by the following laboratories: Genetika Plzeň s.r.o., Institute of Reproductive Medicine and Genetics, Karlovy Vary, and Institute of Medical Genetics, University Hospital, Pzeň. I have also used data obtained from the Czech Institute of Medical Information and Statistics (ÚZIS) as well as data found in various Internet sites. The purpose of this research was to provide graphics demonstrating the results, unify various types of results and try to find possible interrelations. It is obvious from the results that there has been a shift in the age group of maximum fertility from ages 20 ? 24 in 1995 to 30 ? 34 years in 2008. The mean age of mothers whose foetuses were diagnosed with Down syndrome in individual years ranged in the interval from 27 to 37.5 years. There were no differences in the representation of Down syndrome in individual years, and also the representations found in individual workplaces did not show any significant differences, ranging from 0.19 to 1.52%. The mean occurrence rate of Down syndrome as calculated from the results published by ÚZIS from the period 1994 ? 2007 was 1 for 1,700 live births. I succeeded in realizing all the targets of my work. Both prenatal and postnatal occurrence rates of aberrations in the workplaces of interest varied for individual years or showed only minor signs of increasing or decreasing rates. Monitoring of larger number of workplaces appears warranted to confirm my hypothesis.
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