dc.contributor | Galera, Marcial Francis | |
dc.contributor | http://lattes.cnpq.br/3408657282738863 | |
dc.contributor | Galera, Marcial Francis | |
dc.contributor | 404.138.021-91 | |
dc.contributor | http://lattes.cnpq.br/3408657282738863 | |
dc.contributor | Branco, Carmen Lúcia Bassi | |
dc.contributor | 602.609.809-78 | |
dc.contributor | http://lattes.cnpq.br/0202623098081674 | |
dc.contributor | 404.138.021-91 | |
dc.contributor | Cernach, Mirlene Cecilia Soares Pinho | |
dc.contributor | 074.198.688-40 | |
dc.contributor | http://lattes.cnpq.br/2624975920581589 | |
dc.date.accessioned | 2018-04-27 | |
dc.date.accessioned | 2021-07-01T14:05:19Z | |
dc.date.accessioned | 2022-10-12T18:18:14Z | |
dc.date.available | 2018-04-27 | |
dc.date.available | 2021-07-01T14:05:19Z | |
dc.date.available | 2022-10-12T18:18:14Z | |
dc.date.created | 2018-04-27 | |
dc.date.created | 2021-07-01T14:05:19Z | |
dc.date.issued | 2018-03-29 | |
dc.identifier | VENÂNCIO, Amanda Cristina. Frequência de anomalias cromossômicas e análise de variações genômicas estruturais em indivíduos atendidos em um laboratório de citogenética em Cuiabá – MT. 2018. 75 f. Dissertação (Mestrado em Ciências da Saúde) - Universidade Federal de Mato Grosso, Faculdade de Medicina, Cuiabá, 2018. | |
dc.identifier | http://ri.ufmt.br/handle/1/2578 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/4093990 | |
dc.description.abstract | Changes in chromosomes are the cause of several disorders in humans and currently
represent, together with congenital anomalies of other origins, the second cause of
infant mortality in Brazil. Aneuploidy, a change in the total number of chromosomes, is
the most frequent type of chromosomal abnormality and is easily identified by
karyotype examination. Some structural chromosome rearrangements may require more
detailed analysis by advanced molecular cytogenetics techniques for accurate diagnosis
and prognosis. The aim of this study was to analyze the results of peripheral blood
karyotypes performed in a cytogenetic laboratory in Cuiabá-MT over a period of 28
years (1988 to 2016), as well as to perform a better investigation by the cytogenetic
technique of comparative genomic hybridization based on microarray (array-CGH), in
selected cases of structural chromosomal rearrangements. 4,375 karyotype results were
studied, with chromosomal abnormalities being identified in 14%. Of these,
aneuploidies were the most frequent type of anomaly, including trisomies of
chromosomes 21, 18 and 13, and monosomy X. Down's syndrome was observed in
more than half of the total cases (56.8%), and Turner's syndrome represented the second
most common chromosomal disorder (16%). Of the structural changes the deletions
were more frequently found. Cytogenetic investigation was performed in 3 cases: ring
20 chromosome; duplication 10q and duplication 1q. The characterization of the annular
chromosome by the CGH array revealed the presence of two genomic imbalances in the
long arm of the chromosome: a microduplication (302,774Kb) and a microdeletion (1.4
Mb). Twenty genes involved in the rearrangement were identified, and a genotypephenotype correlation could be proposed for the case. The NTSR1 gene has also been
identified as a possible candidate gene for clinical dysfunctions presented by long arm
deletion ring 20 carriers. | |
dc.publisher | Universidade Federal de Mato Grosso | |
dc.publisher | Brasil | |
dc.publisher | Faculdade de Medicina (FM) | |
dc.publisher | UFMT CUC - Cuiabá | |
dc.publisher | Programa de Pós-Graduação em Ciências da Saúde | |
dc.rights | Acesso Aberto | |
dc.title | Frequência de anomalias cromossômicas e análise de variações genômicas estruturais em indivíduos atendidos em um laboratório de citogenética em Cuiabá – MT | |
dc.type | Tesis | |