Structural Chromosome Rearrangements
Mostrando 1-12 de 68 artigos, teses e dissertações.
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1. Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
ABSTRACT CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. I
Sao Paulo Med. J.. Publicado em: 21/08/2017
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2. Cytogenetic analysis of three sea catfish species (Teleostei, Siluriformes, Ariidae) with the first report of Ag-NOR in this fish family
Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been karyotyped. Cytogenetic analyses performed on Genidens barbus and Sciades herzbergii revealed that both species have 2n = 56 chromosomes and Cathorops aff. mapal
Genetics and Molecular Biology. Publicado em: 30/04/2010
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3. Karyotype differentiation of four Cestrum species (Solanaceae) revealed by fluorescent chromosome banding and FISH
The karyotypes of four South American species of Cestrum (C. capsulare, C. corymbosum, C. laevigatum and C. megalophylum) were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. The karyotypes showed a chromosome number of 2n = 2x = 16, with metacentric chromosomes, except for the eighth submeta- to acroc
Genetics and Molecular Biology. Publicado em: 2009
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4. Characterization of chromosome rearrangements in patients with multiple congenital malformation and/or mental retardation (MCM/MR) / Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)
Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplicat
Publicado em: 2008
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5. Contribuição citogenética à análise da biodiversidade em Astyanax fasciatus (Pisces, Characidae).
Astyanax fasciatus is characterized as a cytogenetically diverse species. Sympatric and syntopic occurrence of distinct cytotypes corroborates the hypothesis that A. fasciatus might represent a species complex sharing a common denomination. In this work, specimens from three collection sites along Mogi-Guaçu River, on Southeastern Brazil, were examined: (1)
Publicado em: 2005
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6. Nuclear DNA content in 20 species of Siluriformes (Teleostei: Ostariophysi) from the Neotropical region
In the present study, 20 species of Siluriformes fish were analyzed in order to determine their nuclear DNA content and compare these data with their diploid number. In addition, the extension and importance of the changes that occurred during the process of diversification in the group of Neotropical freshwater catfish were investigated. The only species st
Genetics and Molecular Biology. Publicado em: 2004
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7. Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation
Seventy-two patients with clinical diagnoses of Prader-Willi (PWS; n = 28 patients) or Angelman syndromes (AS; n = 44 patients) were submitted to chromosome analysis, SNRPN-SNURF exon 1 methylation assay, and microsatellite genotyping. Analysis of the methylation pattern confirmed the PWS diagnosis in 18 out of 28 patients and the AS diagnosis in 20 out of 4
Genetics and Molecular Biology. Publicado em: 2002
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8. Associações telomericas como indicadores de instabilidade cromossomica em pacientes com leucemias mieloides e sindromes mielodisplasicas
The associations between specific chromosomal abnormalities and different types of hematological neoplasias are well established. However, telomeric associations (tas), which are associations between termini regions of chromosomes (telomeres), are sporadicly observed in neoplasias, leading to the question about their role as a biological indicator of occupat
Publicado em: 1999
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9. Estudo cromossomico em sindromes mielodisplasicas
The míelodysplastyc syndromes (MDS) can precede the development of acute nonlymphocytic leukemia (ANLL) and are classified as five different hemotological groups 1) refractory anaemia (RA), 2) refractory anaemia with ring sideroblasts (RAS), 3) refractory anaemia with excess blasts (RAEB), 4) refractory anaemia with excess blasts in transformation (RAEBt) a
Publicado em: 1988
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10. Genomic Instability in Wheat Induced by Chromosome 6b(s) of Triticum Speltoides
A massive restructuring of chromosomes was observed during the production of a substitution of chromosome 6B(s) from Triticum speltoides (Tausch) Gren. ex Richter for chromosome 6B of Chinese Spring wheat (Triticum aestivum L.). Deletions, translocations, ring chromosomes, dicentric chromosomes and a paracentric inversion were observed. Chromosome rearrangem
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11. The Waxy Locus in Maize III. Effect of Structural Heterozygosity on Intragenic Recombination and Flanking Marker Assortment
The effect of heterozygosity for structural rearrangements on recombination between two wx heteroalleles (C and 90) and the pattern of flanking markers in the resultant Wx gametes has been examined. The rearrangements are Tp9, an insertional translocation in which a segment of chromosome 3 has been inserted into the short arm of chromosome 9 close to the wx
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12. Analysis of G banded karyotypes in myeloma cells.
Karyotypes of bone marrow cells from 24 patients with multiple myeloma (MM) and two patients with de novo plasma cell leukaemia (PCL) were analysed by Giemsa banding (G banding). Chromosome aberrations were found in 13 patients with MM and both patients with PCL. Hyperdiploid and hypodiploid lines were present in eight and five of the patients with MM, respe