• A study investigating a malignant phyllodes tumor with whole genomic and proteomic analysis revealed chromosome mutations, amplifications, and deletions. (medscape.com)
  • Recent molecular genetic analyses of astrocytomas have demonstrated frequent chromosome 17 deletions involving the telomeric region of the short arm (17p12-pter). (nih.gov)
  • Whole genome array-CGH analysis confirmed a homozygous deletion on chromosome 2q13, NPHP1 site, and revealed that the size of the copy number loss was approximately 102 Kbp. (nih.gov)
  • A total of 3,671 sequence contigs and scaffolds were mapped to deletion bins on wheat chromosome 7B providing a foundation for developing high-resolution integrated physical map for this chromosome. (usda.gov)
  • To aid the integration of these two types of maps, we have constructed a high-density deletion bin map of chromosome 7B. (usda.gov)
  • Chinese spring deletion lines, a total of 3,671 sequence contigs and scaffolds (~7.8 % of chromosome 7B physical length) were mapped into nine deletion bins. (usda.gov)
  • Our method of genotyping deletions on chromosome 7B relied on a model-based clustering algorithm (Mclust) to accurately predict the presence or absence of a given genomic sequence in a deletion line. (usda.gov)
  • This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
  • You can use random sequence oligonucleotides to identify single nucleotide polymorphisms (SNPs) as well as small scale chromosome events, primarily insertions or deletions [ 5,6 ]. (idtdna.com)
  • 1%) of individuals with clinical findings of the 22q11.2 deletion syndrome have chromosomal rearrangements involving 22q11.2, such as a translocation between chromosome 22 and another chromosome. (22q.org)
  • We found that Dusp4 loss alone is insufficient in mediating tumorigenesis, but alternatively converges with loss in Trp53 and MYC amplification to induce tumorigenesis primarily through chromosome 5 amplification, which specifically upregulates Dbf4 , a cell cycle gene that promotes cellular replication by mediating cell cycle checkpoint escape. (biomedcentral.com)
  • [ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)
  • Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
  • A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)
  • Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)
  • Amplification of the MYCN protein is a genetic mutation associated with neuroblastoma tumors. (wikipedia.org)
  • To study the possible role of TP53 in astrocytoma development, 24 randomly chosen human astrocytic tumors were examined for genomic TP53 sequence aberrations using primer-directed DNA amplification in conjunction with direct sequencing. (nih.gov)
  • Genomic amplification of FLT3 has been reported in solid tumors including colorectal cancer, breast cancer, and gastric cancer [ 9 ]. (hindawi.com)
  • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. (idtdna.com)
  • Amplification and overexpression of VGLL3 was a consistent feature in MIFS and MIFS-like tumors with amplicons in 3p11-12. (mendeley.com)
  • Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing. (genomeweb.com)
  • Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
  • The JAX Advanced Precision Medicine Laboratory offers an innovative OncoMethyl™ Array service to classify central nervous system (CNS) tumors based on genomic methylation profiling. (jax.org)
  • The JAX OncoMethyl™ Array utilizes a machine learning algorithm intended to provide supplemental information for the classification of central nervous system (CNS) tumors based on genomic methylation profiling data. (jax.org)
  • The JAX OncoMethyl™ Array utilizes a machine learning algorithm for the classification of central nervous system (CNS) tumors based on genomic methylation profiling data. (jax.org)
  • FISH probes designed to detect subtelomeric rearrangements have given a significant diagnostic yield of around 6% in patients with unexplained learning disability and dysmorphic features, 1- 3 but interstitial chromosomal deletions and duplications are not detectable using this method. (bmj.com)
  • 4, 5 Its sensitivity has been refined to permit detection of chromosomal deletions as small as 3 Mb. (bmj.com)
  • The Y-chromosomal short tandem repeat (Y-STR) polymorphisms included in the AmpF l STR® Yfiler® polymerase chain reaction amplification kit have become widely used for forensic and evolutionary applications where a reliable knowledge on mutation properties is necessary for correct data interpretation. (springer.com)
  • Common chromosomal fragile sites (CFSs) are genomic regions prone to form breaks and gaps on metaphase chromosomes during conditions of replication stress. (ku.dk)
  • Twelve copy number abnormalities were identified in 12 patients (24% of the total): seven deletions (six apparently de novo and one inherited from a phenotypically normal parent) and five duplications (one de novo and four inherited from phenotypically normal parents). (bmj.com)
  • Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. (nih.gov)
  • The pipeline includes an algorithm for the detection of large (single exon-level or larger) deletions and duplications. (arupconsult.com)
  • Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. (cdc.gov)
  • Loss of genomic regions by deletion can occur at chromosomes 1p and 11q. (wikipedia.org)
  • More recently, the technique of comparative genomic hybridisation (CGH) using metaphase chromosomes has been applied to this clinical problem. (bmj.com)
  • Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
  • The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). (hindawi.com)
  • Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
  • This was in line with WGS and Cap-seq results, revealing variable breakpoints in chromosomes 1 and 10 and genomic breakpoints that should not yield functional fusion transcripts. (mendeley.com)
  • Molecular alterations long known to contribute to WT development include mutations and/or deletions involving WT1 , WTX , CTNNB1 and loss of imprinting or loss of heterozygosity (LOH) at 11p15 (reviewed in ref. 5 ). (nature.com)
  • We report in-frame insertion/deletion MLLT1 mutations in FHWT that are absent in other TARGET paediatric tumour types. (nature.com)
  • ERBB2 GVs included 4 mutations and 1 amplification. (aacrjournals.org)
  • To determine the genetic basis for this difference, inactivating CYP2D6 mutations were assessed by allele-specific PCR amplification and RFLP analyses of genomic DNA from 126 unrelated whites and 127 unrelated blacks. (jci.org)
  • We find that together with loss-of-function mutations in p53 and, to some degree, potentiated by cMyc overexpression, Dusp4 deletion aids in cell cycle checkpoint escape while simultaneously potentiating hallmarks of replicative stress, including multinucleation and Chk1 phosphorylation. (biomedcentral.com)
  • Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)
  • A (p.I263Nfs8*), a 2 bp duplication in exon 2: c.551_552dupTA (p.Q185Yfs4*) and an 11,117 bp deletion that removes all three coding exons of RP1 . (molvis.org)
  • Selected genomic regions, primarily coding exons and exon-intron boundaries, from the targeted genes are isolated from extracted genomic DNA using a probe-based hybrid capture enrichment workflow. (arupconsult.com)
  • Large deletion/duplication calls made using MPS are confirmed by an orthogonal exon-level microarray when sample quality and technical conditions allow. (arupconsult.com)
  • c In most cases, a single exon deletion or duplication is less than 450 bp and 3 exons span a genomic region larger than 700 bp. (arupconsult.com)
  • All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
  • Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. (nih.gov)
  • The predominance of single nucleotide insertion/deletions and substitution events between genes within families (individual genes and gene paralogs) is consistent with a model of gene amplification followed by single base random mutational events expected under the classical model of duplicated gene evolution. (biomedcentral.com)
  • The experienced, multidisciplinary team of scientists uses the comprehensive JAX Clinical Knowledgebase to help oncologists and translational researchers identify relevant biomarkers, interpret complex genomic tumor profiles, and select the best treatment options for each patient. (jax.org)
  • We here used a combination of deep sequencing of the genome (WGS), captured sequences (Cap-seq), and transcriptome (RNA-seq) and genomic arrays to investigate the molecular outcome of the t(1;10) and the VGLL3 amplicon, as well as to assess the spectrum of other recurrent genomic features in MIFS. (mendeley.com)
  • Other recurrent genomic imbalances in MIFS, such as homozygous loss of CDKN2A and 3p- and 13q-deletions, are shared with other sarcomas, suggesting overlapping pathogenetic pathways. (mendeley.com)
  • A few individuals with findings of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and no deletion by FISH, MLPA, CGH or microarray. (22q.org)
  • Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. (cdc.gov)
  • Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. (cdc.gov)
  • Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. (cdc.gov)
  • As in small cell carcinoma of other organs, the tumor cell exhibits abundant genomic aberrations. (medscape.com)
  • Copy number variation due to polymorphism or to genomic instability in cancer is also a possible cause for observing a correlation between neighboring genes [ 1 ], as their expressions are likely to be affected by the same copy number variation (CNV). (biomedcentral.com)
  • The human papillomavirus type 16 E6 and E7 oncoproteins cooperate to induce mitotic defects and genomic instability by uncoupling centrosome duplication from the cell division cycle. (virosin.org)
  • Uromodulin (UMOD), known to be involved in adult medullary cystic kidney disease, and nephronophthisis 1 (NPHP1) were investigated in the genomic DNA of the probands using DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis and molecular karyotyping. (nih.gov)
  • These values do not apply to testing performed by multiplex ligation-dependent probe amplification (MLPA). (arupconsult.com)
  • The molecular mechanisms related to the switch from the acute to the persistent CV-B infection in human cardiac tissue are still unknown, but they could be related to terminal deletions on the 5′ NCR cloverleaf structure, resulting in low replication levels. (cdc.gov)
  • Molecular profiling using genomic approaches is becoming an important complement to this process and may eventually become a new paradigm for drug discovery that is based on complex biomarker sets, or molecular profiles, that are monitored in vivo. (ddw-online.com)
  • We find that this type of non-canonical fork convergence in fission yeast is prone to trigger deletions between repetitive DNA sequences via a mechanism we call Inter-Fork Strand Annealing (IFSA) that depends on the recombination proteins Rad52, Exo1 and Mus81, and is countered by the FANCM-related DNA helicase Fml1. (elifesciences.org)
  • a) PCR-based amplification of randomly selected bin mapped sequences (b) comparison with previously mapped ESTs and (c) comparison with a 7B genetic map developed in the present study. (usda.gov)
  • Large scale gene analysis of most organisms is hampered by incomplete genomic sequences. (biomedcentral.com)
  • The identification of potential gene sequences (pHaps) from soybean allows us to begin to get a picture of the genomic history of the organism as well as begin to observe the evolutionary fates of gene copies in this highly duplicated genome. (biomedcentral.com)
  • Genomic sequencing of selected loci indicate that intron-like intervening sequences are numerous and are approximately 220 bp in length. (biomedcentral.com)
  • DNA sequencing was performed for 3,769 exons of 236 cancer-related genes plus 47 introns from 19 genes to an average depth of 1000X using the Illumina HiSeq 2000 platform.Results: 162 genomic variations (GV) were identified from 56 patient samples with an average of 2.89 GVs/patient (range 0-10). (aacrjournals.org)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • Specifically, we have introduced an 80-kilobase deletion in intron 7 of PRKN. (ku.dk)
  • Biotech Europe GmbH, Freiburg, Germa- cation of the virus in cells heterozygous for ny) was used to extract genomic DNA the mutation proceeded at an intermediate from white blood cells following the lysis rate [ 5 ]. (who.int)
  • Moreover, CFSs are hotspots for deletions and amplifications in cancer genomes. (ku.dk)
  • Such EST data form a valuable foundation for the understanding of the gene composition and genomic biology of yet-to-be fully sequenced genomes [ 3 ]. (biomedcentral.com)
  • Real-time quantitative reverse transcription PCR was performed for quantitative detection of total and strand-specific EV-genus genomic RNA according to previously published protocols ( 7 ). (cdc.gov)
  • Amplification occurs within a protein called the MYCN oncogene. (wikipedia.org)
  • Loss at 1p is correlated with MYCN amplification and advanced disease state. (wikipedia.org)
  • Ploidy and MYCN amplification have been used as genetic markers for risk stratification and therapeutic decision making, and, more recently, gene expression profiling and genome-wide DNA copy number analysis have come into the picture as sensitive and specific tools for assessing prognosis. (biomedcentral.com)
  • Rarely, small deletions of genetic material from the AFF2 gene are associated with fragile XE syndrome, although how these deletions affect the protein and lead to intellectual disability is unknown. (medlineplus.gov)
  • The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, are now considered to be a part of Wolf-Hirschhorn syndrome. (medscape.com)
  • Three different categories of the Wolf-Hirschhorn syndrome phenotype are defined and generally correlate with the extent of the 4p deletion. (medscape.com)
  • The second and far more frequent category is identified by large deletions that average 5-18 Mb and cause the widely recognizable Wolf-Hirschhorn syndrome phenotype. (medscape.com)
  • The third clinical category results from a very large deletion that exceeds 22-25 Mb, causing a severe phenotype that can hardly be defined as typical Wolf-Hirschhorn syndrome. (medscape.com)
  • Prenatal mortality rate of Wolf-Hirschhorn syndrome is not significantly augmented because 4p deletions are not reported as an increase in spontaneous abortions. (medscape.com)
  • SGTP), which alongside genomic sequencing, has facilitated sample of ICATT specimens, were assessed by SGTF/SGTP early monitoring of emerging variants. (cdc.gov)
  • Problems that arise during DNA replication can drive genomic alterations that are instrumental in the development of cancers and many human genetic disorders. (elifesciences.org)
  • It is also suggested that acquisitions of genomic alterations in typical invasive urothelial carcinoma lead to the development of small cell carcinoma. (medscape.com)
  • G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p). (medscape.com)
  • One published report described the presence of EV-B strains containing genomic 5′ terminally deleted populations in heart tissues from a patient who had died of fulminant myocarditis ( 3 ). (cdc.gov)
  • The overall goal of all CCG programs is to help elucidate the mechanisms of cancer initiation and evolution, as well as resistance to therapy by means of genomic characterization of well-annotated, high quality tumor samples. (nih.gov)
  • The parents were heterozygous for this deletion. (nih.gov)
  • Over the last years, 17 Y-STRs included in the commercially available AmpF l STR® Yfiler® polymerase chain reaction (PCR) amplification kit (Applied Biosystems, Inc., Foster City, CA, USA) have become widely used in the forensic genetic community as well as for evolutionary anthropological studies. (springer.com)
  • No recurrent deletion or duplication was identified within this cohort of patients. (bmj.com)
  • This FOA solicits applications for a Processing Genomic Data Center that will be a part of the Genomic Data Analysis Network. (nih.gov)
  • Genomic DNA was extracted from white blood cells, and a genome-wide linkage or a locus-specific exclusion analysis was completed with polymorphic short tandem repeats (STRs). (molvis.org)
  • The JAX Advanced Precision Medicine Laboratory delivers precise genomic testing and critical data analysis services to help improve patient care. (jax.org)
  • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. (medlineplus.gov)
  • Stettner GM, Shoukier M, Hoger C, Brockmann K, Auber B. Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. (medlineplus.gov)
  • The first is composed of a small deletion (≤3.5 Mb) that is usually associated with a mild phenotype, lacking major malformations. (medscape.com)