Home > Search Results: keywords:"submicroscopic aberrations"
Search:
Search Tips :: Advanced Search
Search collections:
Sort by: Display results: Output format:
National Repository of Grey Literature 1 records found  Search took 0.00 seconds. 
Detection of submicroscopics aberrations using arrayCGH
 HORÁKOVÁ, Pavla
This thesis addresses array CGH method (Comparative Genomic Hybridization on microarrays) and its use inprenatal and postnatal genetic diagnosis. The method used was to determine the chromosomal areas in which the number of copies of DNA sequences had changed. Localizations of the aberrations sites are not known in advance; the issue is that of all genomic screening. The method is used in suspected cases of microdeletion and microduplication syndromes. It may also be used in cases of patients with pathological phenotypic changes, but other methods have shown no change in genetic makeup. This thesis focuses on diagnosis in the prenatal period and investigates the causes of pathological symptoms in the postnatal diagnosis. Firstly, this thesis describes procedures in clinical cytogenetics and then it discusses submicroscopic changes. Secondly, the thesis looks into the array CGH method, explains its procedure and use, and evaluates and interpretates its results. Finally, the work statistically evaluates the array CGH data procured in the OLG department in Thomayrova hospital from 8/ 8 to 3/19. The array CGH method may be used to supplement routinely administered cytogenetic tests. It enables specialists to obtain more detailed information about the genetic material of an individual and examine the frequency of microdeletion and microduplication syndromes. The diagnosis and prognosis of patients may be determined based on the results.
Detailed record

Interested in being notified about new results for this query?
Subscribe to the RSS feed.
Digital Repository :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.2
Maintained by admin.invenio@techlib.cz
This site is also available in the following languages:
Česky  English