keywords:"aCGH" - Search Results - Digital Repository

guest :: login Digital Repository
		Search		Submit		Help		About

Home > Search Results: keywords:"aCGH"

Search:

Search Tips :: Advanced Search

Search collections:

Sort by:	Display results:	Output format:

	Aberrations of chromosome 5 in adult patients with myelodysplastic syndromes (MDS) Šejgunovová, Nikola ; Zemanová, Zuzana (advisor) ; Urbánková, Helena (referee) Myelodysplastic syndrome (MDS) is a clonal disease of hematopoesis resulting from damage to hematopoietic stem cells. The most common chromosomal aberration in patients with MDS is deletion of the long arms of chromosome 5, del(5q). The aim of this study is to analyse unbalanced aberrations of chromosome 5 in MDS patients, to compare the extent of 5q deletion in groups of patients with isolated del(5q) and with del(5q) in complex karyotypes, and to study the effect of the extent of del(5q) on overall survival and prognosis of the disease. We combined cytogenomic methods to examine 88 bone marrow samples from patients with MDS and del(5q) confirmed by conventional banding methods. Del(5q) was present in the karyotype as an isolated aberration in 31 patients (35,2 %), in combination with one other clonal aberration in 9 patients (10,2 %), and as part of complex karyotypes in 48 patients (54,6 %). Patients with complex karyotypes had a lower overall survival than patients with isolated del(5q). The occurrence of complex karyotypes was associated with a large extent of 5q deletion. When both the occurrence of complex karyotypes and the extent of 5q deletion were considered, only karyotype complexity had a significant effect on patients' overall survival. The extent of the deletion does not affect... Detailed record
	Analýza aneuploidií a studium meiózy u oocytů metodou komparativní genomové hybridizace na DNA čipu Kocur, Tomáš Aneuploidy frequency increases with advanced female age and results in infertility or live birth of affected individuals. Aneuploidies occur mainly during female meiosis. Polar bodies biosied from oocytes after first and second meiosis were analyzed using array comparative genomic hybridization testing for all chromosomes. More than a half of tested oocytes were aneuploid. Aneuploidies as a result of nondisjunction in meio-sis II were slightly more frequent than meiosis I errors. Premature chromatide predivisi-on was absolutely predominant among errors occurring during meiosis I. Despite the fact that aneuploidies were detected for each chromosome, most aneuploidies were detected for small acrocentric chromosomes. Possible mechanisms of aneuploidy formation are discussed in context of information obtained by the means of animal biotechnologies at different species of mammals. Detailed record
	Using of aCGH method in preimplantation genetic diagnostics PITTROVÁ, Monika Preimplantation genetic analysis allows testing embryos produced by in vitro fertilisation before their transfer into the uterus. Preimplantation genetic analysis can be performed as screening of random aneuploidies (PGS) or targeted diagnosis of familial chromosomal aberrations or monogenic diseases (PGD) or combination of both approaches (PGD/PGS). Preimplantation genetic testing is appropriate for wide spectre of patients undregoing human assisted reproduction treatment. Array comparative genomic hybridization (aCGH) is sensitive and high throughput method for detection of chromosomal copy number changes on whole embryonal genome, therefore allows performing screening of random aneuploidies (PGS) in combination with diagnosis of unbalanced chromosomal familial aberrations (PGD/PGS). The data for this study were obtained from Genetic Laboratory IVF Zentren Prof. Zech in Pilsen during 2014. The results of 469 examined embryonal samples resulting from 98 clients were analysed. All biopsies of trophectoderm cells were performed on blastocyst stage. All embryonal samples underwent whole genome amplification (WGA) and were processed using 24sure microarrays (BlueGnome). PGS was performed for 366 embryos in total and combined analysis including PGS and PGD was performed for 103 embryos. An average maternal age at the time of analysis was 40,5. This study demonstrates that there is significantly higher rate of aneuploidy in patients of higher maternal age. A suitability of PGS for older patients was confirmed. In other groups of patients containing IVF cycles with donated oocytes or patients carrying familial chromosomal aberrations a higher profit of fertility treatment was observed. Detailed record

Interested in being notified about new results for this query?
Subscribe to the RSS feed.

Digital Repository :: :: :: ::
Powered by v1.1.2
Maintained by

This site is also available in the following languages:
Česky English