Structural Chromosomal Rearrangements
Mostrando 1-12 de 49 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. 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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3. The mechanisms of formation and clinical effects of two chromosomal deletions: del(X)(p11.23) e del(8)(p23.1) / Os mecanismos de formação e os efeitos clínicos de duas deleções cromossômicas: del(X)(p11.23) e del(8)(p23.1)
As alterações cromossômicas estruturais associadas a fenótipos clínicos oferecem a oportunidade de identificação de genes cujas mutações possam estar determinando essas patologias, tendo em vista a possibilidade de que esses genes podem ter sido alterados pelas quebras ou ter o número de cópias modificado. Um número cada vez maior de evidências
Publicado em: 2007
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4. 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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5. 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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6. 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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7. Chromosomal and Genic Barriers to Introgression in Helianthus
The sexual transfer of genes between taxa possessing different structural karyotypes must involve the passage of genes through a chromosomal sterility barrier. Yet little is known about the effects of structural differences on gene introgression within or adjacent to the rearranged chromosomal fragments or about the patterns of introgression in collinear reg
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8. Molecular mechanism in the formation of a human ring chromosome 21.
We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long
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9. Structural divergence of chromosomal segments that arose from successive duplication events in the Arabidopsis genome
Using the extensive segmental duplications of the Arabidopsis thaliana genome, a comparative study of homoeologous segments occurring in chromosomes 1, 2, 4 and 5 was performed. The gene-by-gene BLASTP approach was applied to identify duplicated genes in homoeologues. The levels of synonymous substitutions between duplicated coding sequences suggest that the
Oxford University Press.
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10. Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5.
We are studying the chromosomal structure of three developmental mutations, dominant spotting (W), patch (Ph), and rump white (Rw) on mouse chromosome 5. These mutations are clustered in a region containing three genes encoding tyrosine kinase receptors (Kit, Pdgfra, and Flk1). Using probes for these genes and for a closely linked locus, D5Mn125, we establis
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11. Structural analysis of integrated polyomavirus DNA in a polyomavirus-induced hamster tumor cell line.
The nucleotide sequence and structural organization of integrated polyomavirus DNA and flanking host chromosomal DNA in a polyomavirus-induced hamster tumor cell line were evaluated. Although the proximal portion of the early transcriptional region was intact, the remainder of the integrated viral sequences was characterized by a series of rearrangements, in
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12. Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1. A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the S