Search results for "CYTOGENETICS"

Involvement of the long arm of chromosome 9 in medulloblastoma in an adult.

1997

Abstract Medulloblastoma is the most common primitive neuroectodermal tumor (PNET) in children, but is very rare in adults. An isochromosome for the long arms of 17, i(17q), is found in about 30% of pediatric cases. Cytogenetic studies in adults are very scarce; only six cases have been described cytogenetically: three cases had normal karyotype, two were studied partially, and another presented only two clonal structural anomalies: del(9)(q12) and del(11)(q22). We studied the chromosomes from medulloblastoma in a 27-year-old woman and found one hypotetraploid stemline with clonal alterations. In the structural anomalies, chromosomes 3, 9, 12, and i(17q) were involved. Chromosome 9 presente…

Systematics of Mepraia (Hemiptera-Reduviidae): cytogenetic and molecular variation.

2009

The haematophagous insects of the subfamily Triatominae (Hemiptera-Reduviidae) have great epidemiological importance as vectors of Trypanosoma cruzi, the causative agent of Chagas disease. Mepraia was originally described as a monotypic genus comprised of Mepraia spinolai, distributed along coastal areas of northern Chile (from Region I to the Metropolitan Region). Recently, some M. spinolai populations have been ranked as a new species named Mepraia gajardoi. Several populations along the distribution range of the genus were sampled, and genetic differentiation was studied based upon the analysis of three molecular markers: cytogenetics (karyotype and chromosome behaviour during meiosis us…

Ribosomal DNA 18S-28S sequence Probe Mapping on Primate Genome: evolutionary insights

2017

Primate Cytogenetics and Comparative Genomics

2006

This volume is a collection of contributions of a Florentine post congress symposium on "Primate Cytogenetics and Comparative Genomics" held on occasion of the XX International Primatological Congress (Turin in 2004). Comparative Molecular Cytogenetics and Genomics are two rapidly expanding fields. Researchers from Italy, Germany, Spain, United States and Japan meet in Florence to discuss over a two day period recent advances and summarize the current state of the science.

Eradication of Culex pipiens fatigans through Cytoplasmic Incompatibility

1967

Culex pipiens fatigans is the chief vector of filariasis in south-east Asia. Urbanization has often caused the numbers of this mosquito—and with it the danger of filariasis infection—to increase alarmingly1. The natural vigour, tolerance and fast development of resistance to insecticides of this mosquito necessitate the development of other control methods, and cytoplasmic incompatibility2 seems to be an ideal means.

DNMT3A mutations Predict for Inferior Outcome in NPM1-Wildtype and Molecular Unfavorable Cytogenetically-Normal Acute Myeloid Leukemia: A Study of th…

2011

Abstract Abstract 415 Background: Alteration of DNA methylation, a hallmark of epigenetic modification, is currently discussed as one important pathomechanism in leukemogenesis. Using a next-generation sequencing approach, a frameshift mutation of the gene encoding the DNA methyltransferase (DNMT3A) in an acute myeloid leukemia (AML) case was identified. DNMT3A catalyses the addition of a methyl group to the cytosine residue of CpG dinucleotides, thereby affecting promoter methylation status and gene expression. Subsequent sequencing analysis in an independent cohort of 288 AML patients (pts) revealed DNMT3A mutations (DNMT3Amut) in 22% of the pts; mutations were associated with intermediat…

Impact of Clinical Features, Cytogenetics, Genetic Mutations and Methylation of CDKN2B and DLC-1 Promoters on Treatment Response to Azacitidine

2019

Introduction : Azacitidine (AZA) is a DNA hypomethylating agent used in myeloid neoplasms, however approximately half of patients show treatment failure or relapse. Last years, several studies have showed that genetic mutations may influence on response and survival of the treated patients. Other biomarkers that have traditionally been associated with the response to AZA are the recovery of the platelet count and the presence of abnormalities in the chromosome 7. Finally, the methylation dynamics of genes promoters could be a useful tool to predict the clinical response. Aim: To assess the predictive value on response to AZA of clinical features, cytogenetics, genetic mutations and the meth…

Single nucleotide polymorphism array karyotyping: A diagnostic and prognostic tool in myelodysplastic syndromes with unsuccessful conventional cytoge…

2013

Cytogenetic aberrations identified by metaphase cytogenetics (MC) have diagnostic, prognostic, and therapeutic implications in myelodysplastic syndromes (MDS). However, in some MDS patients MC study is unsuccesful. Single nucleotide polymorphism array (SNP-A) based karyotyping could be helpful in these cases. We performed SNP-A in 62 samples from bone marrow or peripheral blood of primary MDS with an unsuccessful MC study. SNP-A analysis enabled the detection of aberrations in 31 (50%) patients. We used the copy number alteration information to apply the International Prognostic Scoring System (IPSS) and we observed differences in survival between the low/intermediate-1 and intermediate-2/h…

Autologous Transplantation of In Vivo Purged PBSC in CML

2000

To determine the effectiveness of different methods for the detection of tumor cell contamination of collected peripheral stem cells, we performed a study on 39 chronic myelogenous leukemia (CML) patients who were consecutively treated at our department. Analyses of tumor cell contamination by fluorescence in situ hybridization (FISH), conventional cytogenetics, and polymerase chain reaction (PCR) showed marked differences in the percentage of evaluable results: Quantitative analysis of tumor cell contamination was feasible in 60 of 105 (57%) samples evaluated with the use of conventional cytogenetic analysis and in 105 of 107 (98%) samples analyzed by FISH. PCR was evaluable in all 85 samp…

Response to lenalidomide in myelodysplastic syndromes with del(5q): influence of cytogenetics and mutations.

2012

Summary Lenalidomide is an effective drug in low-risk myelodysplastic syndromes (MDS) with isolated del(5q), although not all patients respond. Studies have suggested a role for TP53 mutations and karyotype complexity in disease progression and outcome. In order to assess the impact of complex karyotypes on treatment response and disease progression in 52 lenalidomide-treated patients with del(5q) MDS, conventional G-banding cytogenetics (CC), single nucleotide polymorphism array (SNP-A), and genomic sequencing methods were used. SNP-A analysis (with control sample, lymphocytes CD3+, in 30 cases) revealed 5q losses in all cases. Other recurrent abnormalities were infrequent and were not ass…