Cytogenetic alterations. Medical search. Frequent questions

BWS is caused by various epigenetic and/or genetic alterations that dysregulate imprinted genes on chromosome 11p15.5. (orpha.net)
There was no structural alteration of chromosome 11. (lu.se)
Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
Single additional alterations to del(5q) by balanced chromosome rearrangements were rarely found in myelodysplasia. (biomedcentral.com)
Conversely, balanced chromosome rearrangements were rarely found as a single additional alteration to del (5q). (biomedcentral.com)
Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
The loss of chromosome 21 was the most frequent alteration found in our sample. (ufpa.br)
The study of benign proliferations and their comparison with chromosome alterations in their malignant counterparts ought to result in a better understanding of the genes acting on cell proliferation alone, and of the genes that cause these cells to exhibit varied behaviors such as recurrences, spontaneous regression and fast growth. (ufpa.br)
Conclusion: Deletions on chromosome 6 are a very rare genetic alteration. (bvsalud.org)
Cytogenetic studies , which are special tests that can detect specific genetic mutations of chromosomes, have shown that patients with CLL often have a loss of part of a chromosome. (medifocus.com)

As patients with MDS have widely variable prognosis, we need to stratify them according to chromosomal abnormalities, genetic alterations, and epigenetic deregulations associated with progression to AML in order to treat these patients appropriately. (karger.com)
There are two kinds af structural cytogenetic abnormalities through progress in culture time. (e-crt.org)

Herein, we describe cytogenetic, genetic and molecular aberrations in MDS, focusing on epigenetic alterations through PcG. (karger.com)
This is AML with myelodysplasia-associated cytogenetic alterations, which includes a whole range of unbalanced and balanced aberrations. (altmeyers.org)
In contrast to chronic myeloid leukemia (CML), different cytogenetic aberrations are found in AML. (altmeyers.org)
complex alterations with more than three recurrent chromosomal aberrations in one clone. (altmeyers.org)

Fragile X syndrome is a cytogenetic abnormality related to chromosomal X. This syndrome is frequently associated to intellectual disability, psychological problems, as well as heart, skeletal and join alterations. (minervamedica.it)
This abnormality led to the concurrent alteration of the FOXP1 and TP63 genes, never before reported in the literature. (biomedcentral.com)

VHL gene alterations. (pathologyoutlines.com)
Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion. (incliva.es)

Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for the pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations are frequent and presumably required for tumor progression. (biomedcentral.com)
Whereas oncogenic KIT or PDGFRA mutations seem vital to promote the neoplastic transformation, additional somatic alterations are presumably necessary for the biological and clinical progression of these tumors and may explain the different responses to targeted therapy seen in these patients. (biomedcentral.com)
Furthermore, the relationship between the pattern of KIT and PDGFRA oncogenic mutations and that of cytogenetic changes has not been systematically studied, precluding a full understanding of the genetic pathways involved in GIST development. (biomedcentral.com)
Somatic TP53 mutations have been detected in up to 73.3% of cases of acute myeloid leukemia (AML) with complex karyotype and 18.9% of AML with other unfavorable cytogenetic risk factors. (pacb.com)
Although the exact cause of chronic lymphocytic leukemia is currently not known, researchers have recently discovered that certain mutations (genetic alterations or errors) that occur in the DNA of normal bone marrow cells can cause these cells to transform into leukemic cells. (medifocus.com)

Genomic studies have now clarified the subclassification of ALL and have demonstrated a close interplay between inherited and somatic genetic alterations in the biology of ALL. (haematologica.org)

Leukemia is a group of clonal diseases derived from a single cell with a genetic alteration in bone marrow or peripheral lymphoid tissue, and each type is determined by the specificity of the source cell. (sld.cu)
This genetic alteration is not hereditary (it is not transmitted from parents to their offspring), although some families have a predisposition to develop myeloproliferative neoplasms. (fcarreras.org)

In contrast, the few fibroadenomas that exhibit chromosomal alterations are likely to be those presenting a risk of neoplastic transformation. (ufpa.br)

Patients with COBL-r are mostly classified as intermediate cytogenetic risk and frequently harbor ETV6, PAX5, CDKN2A/B deletions. (uni-frankfurt.de)

Cytogenetic studies have demonstrated the importance of aneuploidy in differentiated thyroid cancer development. (birmingham.ac.uk)

In particular, balanced alterations involving TP63 and FOXP1 genes were never reported in the literature. (biomedcentral.com)
Genetic alterations in tumors may appear as changes in total DNA content, individual chromosomes, single genes, or gene expression. (nih.gov)

The observed cytogenetic heterogeneity illustrates the complexity of genetic changes involved in the genesis and progression of Wilms' tumour. (lu.se)

Modern molecular techniques (Next Generation Sequencing - NGS) have shown that the disease often consists of genetically different subclones (on average 5 recurrent alterations). (altmeyers.org)

Of the chromosomal alterations found in the present study, only monosomy of chromosomes 19 and 21 has been reported in breast fibroadenomas. (ufpa.br)
Genetic testing encompasses a broad range of laboratory tests performed to analyze DNA, RNA, chromosomes, proteins, and certain metabolites using biochemical, cytogenetic, or molecular methods or a combination of these methods. (cdc.gov)

Subsequent development of leukemia was associated with acquisition of biallelic TP53 alterations. (nature.com)
Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations. (pacb.com)

In order to characterise this syndrome better, facilitate the diagnosis, and provide targeted health care for affected individuals, we have studied 33 patients (32 new observations) with a pure 22q13 partial monosomy, using molecular and cytogenetic methods. (bmj.com)

Cytogenetic and molecular studies are also required, being important for diagnosis, and also in order to estimate the course of the disease. (fcarreras.org)
The most important method in the differential diagnosis is the analysis of cytogenetic alterations in the INI1 gene. (turkishjournalpediatrics.org)
Many of these alterations have important implications for diagnosis and risk-stratification of ALL and for the use and development of novel and targeted approaches. (haematologica.org)
The sample was composed of 12 children and adolescents with cytogenetic-molecular diagnosis of SPW (6 in each group) and their mothers. (bvsalud.org)

We report an overall mutation frequency of 87.5%, with 76.25% of the tumors showing alterations in KIT and 11.25% in PDGFRA . (biomedcentral.com)

Cytogenetic and molecular genetic findings were integrated and correlated with clinico-pathological parameters, including imatinib/sunitinib therapy response. (biomedcentral.com)
Overall, based on this classification, well over 50% of patients with AML are now classifiable by cytogenetic and molecular genetic characteristics. (altmeyers.org)

We found a copy number gain of MDM2 gene as the most frequent alteration in the FISH analysis. (unifesp.br)

The relative contribution of such alterations for the biology and clinical behavior of GIST, however, remains elusive. (biomedcentral.com)

Screening for chromosomal imbalances by array CGH, whether using cDNA 23 or BAC clones, 24 has mainly been performed on cancer samples, 25- 30 which usually contain large gene dose alterations. (bmj.com)
In conclusion, there are genetic alterations through progressing from primary cancer to cancer cell line. (e-crt.org)
Due to these alterations, cancer ce11 1ines don't substituted for primary cancer and can not be availabe for using materials to choose production on monoclonal antibody and theraputic test. (e-crt.org)
Cancer reflects the progressive accumulation of genetic alterations and subsequent genetic instability of cells. (birmingham.ac.uk)

Chromosomal studies could provide a more precise tool for localizing genetic damage, but there is little cytogenetic information about primary breast cancers, no convincing evidence has emerged to target locations in the karyotype that appear specifically altered, and many primary and cultured breast cancers contain cells that appear chromosomally normal. (nih.gov)

Among the methods used for cytogenetic evaluation was the FISH technique for p16 gene deletion. (iiarjournals.org)
Methods We evaluated pulmonary function, hearing loss and speech recognition, as well as cytogenetic alterations. (scielo.org)

In addition, the Eastmond laboratory has an active research program in which molecular cytogenetic techniques are used to detect chromosomal alterations occurring in chemically exposed human populations. (cdc.gov)

Although array CGH has provided a higher resolution compared to conventional CGH, it has not yet become a widely applied method for the analysis of gene dose alterations in individuals with idiopathic mental retardation. (bmj.com)
the conventional cytogenetic analysis revealed the ploidy of M-OS cell line as near-diploid, with most metaphases hyperdiploid and tetraploid. (unifesp.br)

The course therefore aims to provide knowledge of the causes and mechanisms of the diseases and the alterations that derive from them at a tissue, cellular and molecular level. (uninsubria.eu)

In summary, a diverse spectrum of alterations characterizes ΔIKZF1 and they also include deletion breakpoints within COBL. (uni-frankfurt.de)

Abstract Introduction This study evaluated respiratory, audiological and cytogenetic alterations in shipyard workers in Angra dos Reis, state of Rio de Janeiro/Brazil, and their correlation to the occupational exposure of painters to solvents, metals and noise present. (scielo.org)

Many alterations induced by organophosphorate pesticides have been described, such as: cytogenetic alterations in germinal cells, oligozoospermia and teratozoospermia in the mouse. (techscience.com)

Twelve breast fibroadenomas were analyzed cytogenetically and only four were found to have clonal alterations. (ufpa.br)

There are relatively few cell lines of metastatic OS reported in the literature and the cytogenetic aspects of OS metastases are still controversial and inconclusive. (unifesp.br)

This interaction can influence sleep across the menstrual cycle in healthy women and in women with premenstrual dysphoric disorder (PMDD), who experience specific alterations of circadian rhythms during their symptomatic luteal phase along with sleep disturbances during this time. (rafinhibitors.com)

Alteration in DNA content is an imprecise but accessible measurement of the genome. (nih.gov)

Cytogenetic description of breast fibroadenomas: alterations related solely to proliferation? (ufpa.br)

The presence of chromosomal alterations in fibroadenomas must be the consequence of the proliferating process and must not be related to the etiology of this type of lesion. (ufpa.br)

Conclusion Shipyard workers presented alterations that can be associated with occupational exposure. (scielo.org)

methylation alterations are more reliably detected via amniocentesis at present. (orpha.net)

Diseases4

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Phenomena and Processes5

Chromosome13

Abnormalities2

Aberrations4

Abnormality2

Gene alterations2

Mutations5

Genomic1

Genetic alteration2

Neoplastic transformation1

Deletions1

Aneuploidy1

Genes2

Progression1

Recurrent1

Chromosomes2

TP532

Monosomy1

Diagnosis4

Tumors1

Molecular genetic2

Frequent1

Clinical1

Cancer4

Studies1

METHODS2

Detect1

Analysis2

Diseases1

Deletion1

Study1

Cells1

Found1

Reported in the literature1

Specific1

Content1

Breast1

Presence1

Workers1

Present1