AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsInformation ScienceHealth Care
Comparative Genomic HybridizationNucleic Acid HybridizationChromosome AberrationsGene DosageIn Situ Hybridization, FluorescenceOligonucleotide Array Sequence AnalysisDNA Copy Number VariationsChromosomes, Artificial, BacterialChromosome DeletionKaryotypingGene AmplificationDNA, NeoplasmGenome, HumanChromosomes, HumanChromosome MappingGenomicsCytogenetic AnalysisAneuploidyChromosomes, Human, Pair 20Chromosomes, Human, Pair 8Gene Expression ProfilingIn Situ HybridizationCytogeneticsChromosomes, Human, Pair 1Chromosome DisordersSequence Analysis, DNAGenome, BacterialSpectral KaryotypingChromosome DuplicationChromosomes, Human, Pair 3Chromosome BandingGenomic InstabilityGene DeletionIntellectual DisabilityChromosomes, Human, Pair 17Gene DuplicationGenomeChromosomes, Human, Pair 11Loss of HeterozygosityChromosomes, Human, Pair 9Microarray AnalysisChromosomes, Human, Pair 13Polymerase Chain ReactionChromosomes, Human, Pair 6Molecular Sequence DataPhylogenyBase SequenceChromosomes, Human, Pair 4Chromosomes, Human, Pair 7Chromosomes, Human, Pair 12Cluster AnalysisGenetic VariationChromosomes, Human, Pair 16Paraffin EmbeddingAllelic ImbalanceChromosome BreakpointsChromosomes, Human, Pair 15Abnormalities, MultipleChromosome BreakagePolar BodiesChromosomes, Human, Pair 2PhenotypeSegmental Duplications, GenomicChromosomes, Human, Pair 22Chromosome PaintingGene Expression Regulation, NeoplasticNucleic Acid Amplification TechniquesSequence DeletionTranslocation, GeneticChromosomes, Human, Pair 18Chromosomal InstabilityKaryotypeGenomic IslandsGenes, NeoplasmMutationMicrosatellite RepeatsDNAPreimplantation DiagnosisPloidiesChromosomes, Human, Pair 5Breast NeoplasmsEvolution, MolecularDNA, BacterialAlgorithmsSpecies SpecificityChromosomes, Human, Pair 14MicrodissectionChromosomes, Human, XFormaldehydeCell Line, TumorKeratoacanthomaPrognosisAbnormal KaryotypeDNA ProbesMultigene FamilyModels, GeneticChromosomes, Artificial, P1 BacteriophageRing ChromosomesChromosomesBrucella ovis
FluorescenceAbnormalitiesGenome HybridizationImbalancesCytogeneticDeletionsOligonucleotideGeneticAberrationsAneuploidyKaryotypeProbesMLPAChromosomesDELETIONTotal genomicInstabilityAlterationsFetalMolecularFISHAnalysesCNVsGenesExomeTumorTRANSLOCATIONAnalysisConventionalVariationTumorsMicroarraysAmplificationHigh-throughputDisordersArray-basedGene expressionMethodsSeverityPatientsDataCopy
Fluorescence10
Abnormalities13
  • MLPA can be used to detect tumours in the glial cells of the brain, as well as chromosomal abnormalities. (wikipedia.org)
  • During the scan, chromosomal abnormalities can be detected. (psychesystems.com)
  • FISH is most useful in many pediatric situations to detect chromosomal abnormalities. (psychesystems.com)
  • Chromosomal abnormalities cause various disorders. (msdmanuals.com)
  • Chromosomal abnormalities fit into several categories but broadly may be considered as numerical or structural. (msdmanuals.com)
  • Background Microarray-based comparative genomic hybridization (aCGH) is certainly a robust diagnostic tool for the detection of DNA copy number benefits and losses connected with chromosome abnormalities, a lot of that are below the resolution of regular chromosome analysis. (bibf1120.com)
  • Molecular Cytogenetics involves all aspects of chromosome biology, such as structural and functional organization of the chromosome and nucleus, chromosomal variation and abnormalities, and the applications of chromosome biology in medicine and tumor genetics. (fintechnews.org)
  • In patients with hematological malignancies, the cancerous cells undergoing apoptosis could release leukemic cfDNA into the blood plasma or bone marrow fluid, and the chromosomal profiling from those cfDNA could be used to detect clonal chromosome abnormalities. (najms.com)
  • In three samples with different clonal chromosome abnormalities, aCGH and cfDSA detected comparable copy number aberrations and further defined the chromosomal abnormalities. (najms.com)
  • Two of them have chromosomal abnormalities, and both acquire 2p gain and 5q deletion at sAML stage. (elsevierpure.com)
  • On the other hand, aCGH showed novel chromosome abnormalities (+2p and del5q) potentially associated with disease progression. (elsevierpure.com)
  • Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
  • MLPA proves to be an efficient method to screen for chromosomal abnormalities. (biomedcentral.com)
Genome Hybridization2
  • Based on conventional cytogenetic analysis of banded chromosomes, we selected a series of 23 paediatric patients with acute myeloid leukaemia and performed whole genome array comparative genome hybridization (aCGH) using DNA samples derived from the same patients. (ox.ac.uk)
  • At low numbers of biomarkers gene and protein expression data types are able to differentiate between cancer cell lines significantly better than the other three data types, namely SNP, array comparative genome hybridization (aCGH), and microRNA data. (biomedcentral.com)
Imbalances7
  • Furthermore, the use of aCGH has generated a paradigm change in genetics which has shifted the explanation and finding of genetic circumstances through the "phenotype-first" approach, where individuals exhibiting identical medical features are determined towards the finding of the root etiology prior, to a "genotype-first" strategy, buy Alda 1 when a collection of people with identical copy-number imbalances could be analyzed for common medical features [15]. (bibf1120.com)
  • Patients with gross genomic imbalances in a region harboring one or more genes targeted on PreventionGenetics' HDGC aCGH, to confirm involvement of such gene(s). (preventiongenetics.com)
  • Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia. (najms.com)
  • Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype. (ox.ac.uk)
  • Imbalances involving large chromosomal regions or entire chromosomes were detected by aCGH in seven of the patients studied. (ox.ac.uk)
  • High-resolution microarray-based comparative genomic hybridization (CGH) techniques have successfully been applied to study copy number imbalances in a number of settings such as the analysis of cancer genomes. (biomedcentral.com)
  • By use of aCGH, DNA derived from tumor tissue can be compared with reference DNA, e.g., normal whole blood DNA, and genomic imbalances can effectively be investigated. (biomedcentral.com)
Cytogenetic6
  • Comparative Genomic Hybridization, or CGH, is a useful cytogenetic diagnostic tool when a diagnosis is unknown. (psychesystems.com)
  • Intro Molecular cytogenetic methods such as for example array-based comparative genomic hybridization (aCGH) possess revolutionized cytogenetic diagnostics and, subsequently, the medical management of individuals with developmental delays and multiple congenital anomalies [1,2]. (bibf1120.com)
  • This is reflected in the widespread use of the aCGH platform, a molecular cytogenetic approach for detecting and locating any net gains or losses of genetic material. (mlo-online.com)
  • FISH and CGH (Comparative Genomic Hybridization) are molecular cytogenetic procedures commonly employed for genetic analysis. (ablogwithadifference.com)
  • CNVs can be detected using cytogenetic techniques such as fluorescent in situ hybridization, array-based comparative genomic hybridization, and SNP genotyping arrays. (biomedcentral.com)
  • Nesthor Perez 2.3 Mechanisms of Structural Variation Cytogenetic Techniques: Chromosome Painting: Nesthor Perez 2.3 Mechanisms of Structural Variation Cytogenetic Techniques: Nesthor Perez 2.3 Mechanisms of Structural Variation Cytogenetic Techniques: Fluorescent in Situ Hybridization (FISH): Nesthor Perez (FISH) Nesthor Perez Outline 1. (studylib.net)
Deletions3
  • Array-based comparative genomic hybridization (aCGH) tracks chromosome deletions and or amplifications using fluorescent dyes on genomic sequences of DNA samples. (wikipedia.org)
  • In one case with FISH-detected deletions of 7q and 20q in 11-12% of cells, neither cfDSA nor aCGH detected any copy number aberrations. (najms.com)
  • The ability to detect chromosomal deletions and duplications through the microscope has been limited: only the larger deletions or duplications have been detected. (dnalabsindia.com)
Oligonucleotide4
Genetic5
  • A chromosomal deletion occurs when seg-ments of genetic information are missing on a particular chromosome or more. (bvsalud.org)
  • Copy number variants (CNVs) are a major source of such genetic variation, and are defined as chromosomal segments at least one thousand bases in length that vary in copy number between individuals. (mlo-online.com)
  • CGH has become popularly used for genomic profiling during cancer studies as well as CNV detection or preimplantation genetic diagnostics procedures. (ablogwithadifference.com)
  • Thus, microarray hybridization is becoming a standard procedure to evaluate the genetic content of a bacterial species. (biomedcentral.com)
  • aCGH provides an understanding of genetic disorders, cancers and other genomic aberrations. (enzolifesciences.com)
Aberrations2
  • Because the exact genomic position is known, aberrations can also be mapped directly onto the chromosomal location. (mlo-online.com)
  • Patterns of genomic aberrations in primary colorectal tumors may reveal a chromosomal signature for organ specific metastases. (tudelft.nl)
Aneuploidy2
Karyotype3
  • Array CGH is the first genomic investigation to have been introduced into clinical practice on a wide scale since the karyotype, which it has largely replaced in many laboratories. (dnalabsindia.com)
  • 35, no prior miscarriage) and normal karyotype seeking elective SET were prospectively randomized into two groups: In Group A, embryos were selected on the basis of morphology and comprehensive chromosomal screening via aCGH (from d5 trophectoderm biopsy) while Group B embryos were assessed by morphology only. (biomedcentral.com)
  • However, few studies have comprehensively evaluated its performance against current standard-of-care diagnostic tests: karyotype, chromosomal microarray (CMA), and exome sequencing (ES). (cdc.gov)
Probes4
  • FISH is a screening test that uses multicolour probes or comparative genomic hybridization to find any chromosome irregularities in a genome. (wikipedia.org)
  • Streamlining both CNV and SNP analysis of the same sample, microarray platforms are now available that incorporate SNP probes onto the aCGH array. (mlo-online.com)
  • In both cases, DNA from two samples are differentially labeled with fluorescent dyes and co-hybridized to immobilized genomic capture probes. (biomedcentral.com)
  • The main advantage of aCGH over conventional CGH is the increased resolution achieved by microarrays with a large number of individual probes, routinely up to hundreds of thousands, covering the entire genome [ 4 ]. (biomedcentral.com)
MLPA2
  • However, our gene-centric aCGH, MLPA, and CMA tests remain as options if desired. (preventiongenetics.com)
  • In the current study, a total of 279 unrelated subjects ascertained for ASDs were screened for genomic disorders associated with CI using MLPA. (biomedcentral.com)
Chromosomes3
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
  • Identification of the chromosomal origin of small supernumerary marker chromosomes and its phenotypic effect. (upd-tl.com)
  • Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. (upd-tl.com)
DELETION1
  • AS is a classic example of genomic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. (medicalmarijuana.com)
Total genomic1
  • The prevalence of CNVs throughout the general population suggests that they represent a significant proportion of total genomic variation, and it has been estimated that CNVs may affect as much as 4% to 5% of the human genome. (mlo-online.com)
Instability2
Alterations1
Fetal1
  • If the reason for testing or specimen type received indicates a fetal demise, this test will be canceled and CMAPC / Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth will be added and performed as the appropriate test. (mayocliniclabs.com)
Molecular3
  • Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. (nih.gov)
  • The availability of both DNA sequencing and PreventionGenetics' HDGC custom aCGH significantly improves the sensitivity of molecular clinical testing at PreventionGenetics. (preventiongenetics.com)
  • Designed specifically for molecular cytogenetics research, these new arrays enable the effortless integration of SNP analysis into existing aCGH workflows, providing additional insight into underlying disease mechanisms, at little extra cost. (mlo-online.com)
FISH4
  • Fluorescent in situ hybridization, or FISH, is a technique used to identify both acquired and congenital diseases. (psychesystems.com)
  • Spectral karyotyping analysis (also called chromosome painting) uses chromosome-specific multicolor fluorescent in situ hybridization (FISH) techniques that improve the visibility of certain defects, including translocations and inversions. (msdmanuals.com)
  • Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. (frontiersin.org)
  • FISH offers high-resolution analysis whereas CGH allows more thorough genomic examination. (ablogwithadifference.com)
Analyses2
  • The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. (nih.gov)
  • and array comparative genomic hybridization (around 2.5-Mb resolution) analyses SB 218078 discovered chromosomal losses to become predominant in the harmless regions of the ganglioglioma, with gains more frequent in the malignant component. (researchtoactionforum.org)
CNVs4
Genes3
  • Copy-number status of all chromosomal arms and 11 genes was determined in 60 ccRCC samples. (bvsalud.org)
  • Deciphering the precise genes surviving in these chromosomal locations may further our knowledge of not merely these uncommon tumors but also the more prevalent gliomas. (researchtoactionforum.org)
  • We postulated that these chromosomal regions likely harbor genes involved in the transformation of a neuroglial precursor to a ganglioglioma and subsequent malignant progression. (researchtoactionforum.org)
Exome1
Tumor1
TRANSLOCATION1
  • Although aCGH followed by frozen embryo transfer has been used to screen at risk embryos (e.g., known parental chromosomal translocation or history of recurrent pregnancy loss), this is the first description of aCGH fully integrated with a clinical IVF program to select single blastocysts for fresh SET in good prognosis patients. (biomedcentral.com)
Analysis5
  • From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene. (wikipedia.org)
  • GenomePlex ® Whole Genome Amplification (WGA) provides a means to decrease the amount of required DNA for aCGH, which could expand the application of the technology to analysis of nanogram quantities of DNA, or even single cells. (sigmaaldrich.com)
  • This is a form of chromosomal identification and analysis. (psychesystems.com)
  • Strikingly, unbiased computational analysis of genomic alteration data correctly classified nearly all progressing low grade dysplasia cases. (biomedcentral.com)
  • Our data demonstrate that high resolution genomic analysis can be used to evaluate progression risk in low grade OPLs, a marked improvement over present histopathological approaches which cannot delineate progression risk. (biomedcentral.com)
Conventional1
  • Although valid concerns about directly adopting existing normalization techniques are expressed, proposed strategies rely on available conventional methods and the inherent properties of aCGH data have, rather than being incorporated in the strategies, mainly been used for calibration and validation. (biomedcentral.com)
Variation1
  • The difficulty with high-resolution aCGH is that it detects more variation than we currently know how to interpret with confidence. (dnalabsindia.com)
Tumors1
  • Genomic amplification of FLT3 has been reported in solid tumors including colorectal cancer, breast cancer, and gastric cancer [ 9 ]. (hindawi.com)
Microarrays1
  • In this study, we demonstrate successful use of WGA DNA on Agilent aCGH microarrays. (sigmaaldrich.com)
Amplification3
  • Genomic amplification of FLT3 has not been reported in hematological disease. (hindawi.com)
  • Comparative study of whole genome amplification and next generation sequencing performance of single cancer cells. (takarabio.com)
  • With optimized, proprietary reagents, the Enzo Life Sciences CGH Labeling Kits for oligo arrays produce high quality data using as little as 0.25 µg of genomic DNA, without a need for pre-amplification. (enzolifesciences.com)
High-throughput1
  • Common ones include microarray based gene expression, microRNA, genomic copy number, and SNP data, but the rise of new technologies including high-throughput transcriptome sequencing (RNA-Seq) and mass spectrometry will continue to increase the diversity of biomarker types readily available for biomarker mining. (biomedcentral.com)
Disorders1
Array-based1
Gene expression1
  • However, at the moment, sequencing is still more costly and less time efficient than hybridization experiments, while hybridization experiments potentially also can provide information regarding gene expression. (biomedcentral.com)
Methods1
  • Both single nucleotide polymorphism (SNP) array and array CGH (aCGH) have been validated as accurate methods to achieve comprehensive chromosome screening when biopsy is performed on d3 for fresh transfer on d5 [ 26 - 30 ]. (biomedcentral.com)
Severity2
Patients3
  • Whole-genome screening creates a personal genomic database (personal genome) that can subsequently be used to deliver 'personalised medicine' to individual patients. (nature.com)
  • For patients in Group A ( n = 55), 425 blastocysts were biopsied and analyzed via aCGH (7.7 blastocysts/patient). (biomedcentral.com)
  • Additional studies are needed to verify our pilot data and confirm a role for on-site, rapid aCGH for IVF patients contemplating fresh SET. (biomedcentral.com)
Data2
  • The experiment described here was designed to demonstrate that GenomePlex WGA can be used to generate high-quality aCGH data across a range of genomic DNA inputs (1-100 ng). (sigmaaldrich.com)
  • Interestingly, as the number of selected biomarkers increases best performing classifiers based on SNP data match or slightly outperform those based on gene and protein expression, while those based on aCGH and microRNA data continue to perform the worst. (biomedcentral.com)
Copy2
  • This method works by detecting chromosomal copy number variants. (psychesystems.com)
  • In essence, relative ratios of copy number between two DNA samples are obtained by comparing the two fluorescent signal intensities for each probe under the assumption that intensities reflect the amount of corresponding genomic DNA in the respective sample. (biomedcentral.com)