Chromosome Breakpoints
Mostrando 1-12 de 325 artigos, teses e dissertações.
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1. Diversity of breakpoints of variant Philadelphia chromosomes in chronic myeloid leukemia in Brazilian patients
Background: Chronic myeloid leukemia is a myeloproliferative disorder characterized by the Philadelphia chromosome or t(9;22)(q34.1;q11.2), resulting in the break-point cluster regionAbelson tyrosine kinase fusion gene, which encodes a constitutively active tyrosine kinase protein. The Philadelphia chromosome is detected by karyotyping in around 90% of chro
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-02
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2. Three decades of studies on chromosomal polymorphism of Drosophila willistoni and description of fifty different rearrangements
Drosophila willistoni (Insecta, Diptera) is considered a paradigm for evolutionary studies. Their chromosomes are characterized by multiple paracentric inversions that make it hard to identify and describe chromosomal poly-morphisms. In the present report we attempted to systematize the description of all the 50 inversions found in the last three decades, si
Genet. Mol. Biol.. Publicado em: 2012
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3. 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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4. Cytogenetics investigation on orofacial cleft individuals and screening of informative cases for further studies / Investigação citogenetica em individuos com fendas orofaciais e triagem dos casos informativos para estudos especificos
Cleft lip with or without cleft palate (CL/P) occurs in approximately 1/500 to 1/1000 newborns and cleft palate (CP), etiologically distinct, in approximately 0,4/1000 newborns. They have a complex etiology, and the great majority of clefts appear to be isolated anomalies, in which have been observed a very important genetic component. However, in a signific
Publicado em: 2007
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5. Polytene chromosome map and inversion polymorphism in Drosophila mediopunctata
Drosophila mediopunctata belongs to the tripunctata group, and is one of the commonest Drosophila species collected in some places in Brazil, especially in the winter. A standard map of the polytene chromosomes is presented. The breakpoints of the naturally occurring chromosomal rearrangements are marked on the map. The distribution of breaking points throug
Memórias do Instituto Oswaldo Cruz. Publicado em: 2002-07
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6. Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone
Cytogenetic analyses were performed on a bone giant cell reparative granuloma (GCRG) and on three bone giant cell tumors (GCT). The present GCRG case is the second to be described cytogenetically. A modal chromosome number of 46 was observed in all samples. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently
Genetics and Molecular Biology. Publicado em: 2002
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7. Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q
Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3–11q24.2. Inheritance of an expanded p(CCG)n trinucleotide repeat at the folate-sensitive fragile site FRA11B has been implicated in the generation of the chromosome breakpoint in several Jacob
Cold Spring Harbor Laboratory Press.
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8. Human T-cell tumours containing chromosome 14 inversion or translocation with breakpoints proximal to immunoglobulin joining regions at 14q32.
T-cell tumours are frequently found to carry an inversion of chromosome 14 (inv(14)) (q11;q32) or more rarely a chromosome 14 translocation t(14;14) with the same cytogenetic breakpoints (q11;q32). We have examined the molecular junctions of an inv(14) and a translocation t(14;14) using T-cell receptor (TCR) alpha joining (J) region probes. Both of these chr
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9. Breakpoints on chromosomes 9 and 22 in Philadelphia chromosome-positive chronic myelogenous leukemia (CML). Amplification of rearranged c-abl oncogenes in CML blast crisis.
We surveyed 20 Philadelphia chromosome (Ph1) positive chronic myelogenous leukemia (CML) samples by Southern blot hybridization to determine the location of the breakpoints that occur on chromosomes 9 and 22 in the Ph1 translocation. Only 3 of 20 samples exhibited breakpoints on chromosome 9 within 18 kilobases (kb) of the v-abl homologous sequences. Mapping
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10. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.
A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation with the probe L1.26 confirmed the derivation from chromosome 13 a
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11. HCAD, closing the gap between breakpoints and genes
Recurrent chromosome aberrations are an important resource when associating human pathologies to specific genes. However, for technical reasons a large number of chromosome breakpoints are defined only at the level of cytobands and many of the genes involved remain unidentified. We developed a web-based information system that mines the scientific literature
Oxford University Press.
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12. Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
Analyses of chromosomal rearrangements that have occurred during the evolution of the hominoids can reveal much about the mutational mechanisms underlying primate chromosome evolution. We characterized the breakpoints of the pericentric inversion of chimpanzee chromosome 18 (PTR XVI), which is homologous to human chromosome 16 (HSA 16). A conserved 23-kb inv
Cold Spring Harbor Laboratory Press.