Aim: Prediction of chromosomal disorders causing to severe pathological conditions can provide big benefits in early diagnosis and treatment. Adding a predeterminable feature to the cancer risk is very important in enlightening of the mechanisms inducing the disease, in elongation of survival times of the patients due to early diagnosis of the disease and in reducing mortality and morbidity by developing effective and economical treatment protocols. Studies using chromosomal aberrations as biological markers indicate that increasing aberration levels are important indicators in predisposition to the cancer. Aim of this study was to determine it this is feasible. One or several types of cancers were used in these studies reported in the literature. The increases in frequency of chromosome aberrations in Italy and Norwegian societies have been associated to some types of cancers ...
Objectives The effects of occupational and leisure-time exposures on the risk of acute myeloid leukemia (AML) were investigated with emphasis on clonal chromosome aberrations (CCA) and morphological subtypes.. Methods Consecutively diagnosed cases of AML (N=333) and 1 population referent per case were retrospectively included in the study. Information on worktasks, companies, and leisure-time activities was obtained with telephone interviews. Exposure probability and intensity were assessed by occupational hygienists. Associations were evaluated with logistic regression.. Results Exposure to organic solvents was associated with an increased risk of AML [low exposure: OR 1.5 (95% confidence interval (95% CI) 1.0-2.3, moderate-high exposure: OR 2.3 (95% CI 1.0-5.0)]. For exposure to solvents, but not to benzene, the OR was 1.2 (95% CI 0.69-2.0) for "low" and 2.7 (95% CI 1.0-7.3) for "moderate-high" exposure. The observed effects increased with intensity and duration of exposure. The estimated ...
In Nuclear Medicine, total body dose calculated after a technetium 99m labeled pharmaceutical administration was very low. Nevertheless, risks evaluation of the radio-induced genetics damages at low doses has become a public health priority. Peripheral lymphocytes can be used to study the effects of ionizing radiations on human cells. The induction by ionizing radiations of unstable structural chromosome aberrations (dicentrics, centrics, and fragments) in peripheral blood lymphocytes is considered to be a useful technique to complete physical dosimetry, and presently is the most advanced biological dosimeter. The aim of the study was to evaluate the potential cytogenetic effects of in vitro and in vivo exposure to technetium 99m (99mTc). Firstly, to evaluate the level of 99mTc activity able to produce a significant number of unstable chromosomal aberrations, specific relationships between activity and number of unstable chromosomal aberrations was established in vitro. The whole blood in vitro ...
The present study was designed to develop a technique to prepare human chromosomes for sequential light and electron microscopic observation and to compare detectability of chromosome aberrations induced by adriamycin and mitomycin C by the two procedures. The technique developed preserved the morphological and structural organization of chromosome while allowing observation of the cells entire chromosome complement. It was rapid and reproducible and chromosomes could be treated and stained for banding. Light microscopic data showed that in cultures of human lymphocytes both drugs induce chromosome aberrations. In comparison with controls both drugs produced significantly more chromosome and chromatid fragments. Electron microscopy revealed greater numbers of chromosome aberrations in both drug groups at higher levels of statistical significance. The differences between chromosome and chromatid fragments observed at the light and electron microscope levels were statistically significant. However, with
Introduction: One of the important causes of male infertility is aberration at the chromosomes. Aim: The main purpose of this study was to determine the frequency and types of chromosomal aberration in infertile/sterile men whose samples were analyzed in the Center for Cytogenetics of Faculty of Medicine University of Sarajevo in the last four years. Methods: A total of 353 infertile/sterile men, between the ages of 22-55 years, referred for cytogenetic analysis to the Center for Genetics of Faculty of Medicine during the period 2013-2016. Karyotyping was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding (GTG) technique. Results: The structural and numerical chromosomal aberration in infertility/ sterility of men found with the incidence of 6% (20/353). Out of the 20 patients with abnormal cytogenetic diagnosis, structural chromosome abnormalities were observed in 17 (85%) patients and 3 (15%) with numerical aberrations. The type of aberrations mostly found were ...
1,3-Butadiene, a colorless gas regularly used in the production of plastics, thermoplastic resins, and styrene-butadiene rubber, poses an increased leukemia mortality risk to workers in this field. 1,3-Butadiene is also produced by incomplete combustion of motor fuels or by tobacco smoking. It is absorbed principally through the respiratory system and metabolized by several enzymes rendering 1,2:3,4-diepoxybutane (DEB), which has the highest genotoxic potency of all metabolites of 1,3-butadiene. DEB is considered a carcinogen mainly due to its high potential as clastogen, which induces structural chromosome aberrations such as sister chromatid exchanges, chromosomal breaks, and micronuclei ...
Detection of FMR1 triplet expansion with fragment analysis in premature ovarian failure patient.. Genetic investigation in the disorders of sexual differentiation: Mutation analysis of the SRY, desert hedgehog (DHH), androgen receptor (AR), 5α-reductase (SRD5A2) and WT1 genes in children with genital abnormalities.. 2. DNA microarray is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders or multiple congenital anomalies. Microarray analysis can identify candidate regions and genes in patients with unexplained mental retardations and developmental delays and discover novel microdeletion and microduplication syndromes. In cases with structural chromosome aberrations the identification of precise breakpoints and involved genes using microarray will allow the better understanding of pathogenesis and study of genotype-phenotype correlation.. 3. Bone disorders: craniosynostosis, achondro- and ...
The chromosome aberration test is designed to evaluate the potential of a test compound to induce structural chromosomal abnormalities such as breaks and exchanges.
TY - JOUR. T1 - Baseline chromosome aberrations in children. AU - Merlo, Domenico Franco. AU - Ceppi, Marcello. AU - Stagi, Elena. AU - Bocchini, Vittorio. AU - Sram, Radim J.. AU - Rössner, Pavel. PY - 2007/7/30. Y1 - 2007/7/30. N2 - Field studies conducted in children exposed to ionizing radiation and industrial chemicals have consistently reported increased frequencies of chromosome aberrations in those environmentally exposed than in referent subjects. Exposure(s) occurring during childhood - as well as in utero - may continue for several years, become chronic, and eventually play a relevant role in the etiology of childhood as well as adulthood cancers. Indeed the statistical association between CA frequency in peripheral blood lymphocytes and cancer risk detected in occupationally exposed adults supports the hypothesis that CA is a predictor of cancer. These facts suggest the usefulness of including CA as biomarkers of genetic damage in epidemiologic studies of children exposed to ...
This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases ...
Chromosome aberrations are large-scale illegitimate rearrangements of the genome. They are indicative of DNA damage and of disease and are informative of nuclear architecture and of DNA damage processing pathways. In this talk I will present our mathematical approaches to analyze multiplex fluorescent in situ hybridization (mFISH)assays ...
Results In BLM treated mice was observed huge perivascular lung fibrosis and significant skin involvement. 17 out of 20 mice developed acute renal involvement with mean proteinuria levels of 730±48 mg/dl. In comparison with the control mice, a significant increase in MN number was observed in BLM treated mice (57,8±4,4 vs 6,3±0,6, p,0.05). CREST staining was higher in MN derived from BLM treated mice (16,4±1,1 vs 3,7±0,7, p,0,025), indicating that in this group lymphocyte MN arised mainly from lagging chromosomes. In addition, an increased frequency of ring chromosome was observed in mice with greater skin fibrosis and renal involvement.A correlation between the presence of CREST stained MN and disease severity parameters as renal failure, lung and skin fibrosis was observed (respectively R=0,4095; R=0,7507 and R=0,9471). ...
A method is provided for determining a clastogenic signature of a sample of chromosomes by quantifying a frequency of a first type of chromosome aberration present in the sample; quantifying a frequency of a second, different type of chromosome aberration present in the sample; and comparing the frequency of the first type of chromosome aberration to the frequency of the second type of chromosome aberration. A method is also provided for using that clastogenic signature to identify a clastogenic agent or dosage to which the cells were exposed.
Structural chromosome abnormalities occur when there is a change in the structure or parts of a chromosome. The total number of chromosomes is typically 46 total per cell. Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Ultimately, this leads to having too much or too little genetic material. This is a cause of some birth defects.. Each chromosome has many segments. These are usually divided into a "short arm" and a "long arm" of the chromosome. The short arm, which is the upper half of the chromosome, is known as the "p arm." The long arm, which is the lower half of the chromosome, is the "q arm." The centromere is the center part of a chromosome that appears "pinched" between the p and q arms.. ...
This study suggests that GBM can be categorized into genetic subgroups and validates aCGH for detecting CNAs in GBM. Our data also identified candidate loci for homozygous deletions and amplifications. We compared aCGH results with data obtained by chromosomal CGH, FISH, and quantitative PCR, and conclude that RR obtained from aCGH is a reliable estimate of relative copy number. Moreover, unlike chromosome CGH, aCGH detects homozygous loss and amplicon size and maps CNAs to precise locations in the genome.. Genetic subgroups. Our data suggest that there are genetically distinct subgroups within GBM (Fig. 7). We identified three provisional genetic subgroups: one with loss of chromosome 10 and gain of chromosome 7 (group C), a second with loss of chromosome 10 only (group B); and a third without chromosome 10 loss or chromosome 7 gain (group A). If the mechanisms that underlie malignant behavior in these genetic subgroups substantially differ, we expect that subgroups may behave differently and ...
The individualization of cancer treatment by fractionated application of ionizing radiation is expected to benefit from a rapid assessment of the radiosensitivity of clonogenic cells in a biopsy obtained before the treatment starts, or of the effectiveness of the first fraction dose of a schedule for damage to cells in a biopsy obtained after this fraction [1].. The measurement of clonogenic capacity of the cells, although it is the most relevant endpoint, requires several weeks of culturing and is likely to depend on selection of cells in adapting to culture media.. The measurement of chromosome aberrations (CA) in mitotic cells as a marker of radiosensitivity may be subject to selection because damaged cells may not all proceed equally rapidly to mitosis. However, the technique of premature chromosome condensation might provide an applicable alternative, because the analysis can be performed rapidly without the requirement of cells entering into mitosis [2-5].. Another recently developed rapid ...
It is well known that cancer is caused by gene abnormalities. There are many types of abnormalities in the genome of cancer cells, including gene fusion because of chromosome rearrangement. The discovery of a characteristic small chromosome, called Philadelphia chromosome, in chronic myeloid leukemia, is the first recurrent chromosome rearrangement to be seen in a human cancer [1]. This rearrangement was eventually identified as a translocation between chromosome 9 and 22 [2], resulting in the fusion of the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9, BCR-ABL1 [3]. Because many chromosomal abnormalities and fusion genes have been discovered by the development of experimental techniques, it has been shown that such fusion genes and chromosomal abnormalities are causes of cancer. Thus, the importance of chromosomal abnormalities and fusion genes in cancer has been recognized.. It is also known that fusion genes have a key role in oncogenesis in hematological tumors and sarcomas. ...
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Introduction. Absorbed dose is the most important physical quantity for evaluating potential biological response as a result of exposure to ionizing radiation (IR). Physical dosimetry is commonly performed by instruments that are sensitive to the physical effects of IR. However, in most cases involving real or suspected accidental exposure, people are not wearing a dosimeter and, as a result, physical dosimetry is not straightforward. For such situations, the study of early biological effects induced by an exposure to IR has been proposed as either a complementary or an alternative method for dose assessment (Downing, 2000; Amaral, 2002; Bonassi and Au, 2002; Ramalho and Nascimento, 1991; Ramalho et al., 1995; Voisin et al., 2001).. Biological dosimetry (biodosimetry) is based on the investigation of radioinduced biological effects (bioindicators) in order to correlate them with the radiation dose. Among the bioindicators employed in biodosimetry, the scoring of chromosome aberrations (CA) is ...
We report a cytogenetically highly complex adult FL grade 2 case that transformed to B-ALL with a karyotype involving eleven chromosomes, a dicentric derivative derived from parts of chromosomes 17 and 18 leading to partial monosomy 17p including TSG TP53 and three yet unreported chromosomal aberrations: t(X;20)(p21.3;q11.2), t(3;20)(q26.2;q12) and dic(17;18)(p11.2;p11.2).. Dicentric chromosomes are normally considered to be instable during mitosis; an idea that was not supported by this and previous own studies [10]. The role of dicentric chromosomes in cancer [11, 12] is still a field to be studied in more detail in future.. FL is regarded as a distinct entity by virtue of its characteristic cellular composition of follicle center cells (centroblasts and centrocytes), uniform immunophenotype (CD10+), and common cytogenetic background displaying the translocation t(14;18)(q32;q21) in most of the cases [13]. Since this primary immortalizing event does not render the cells malignant, it is ...
Normal human foreskin fibroblasts treated in vitro with a chemical carcinogen or irradiated with ultraviolet light subsequently acquired anchorage independent growth and an extended but finite capacity for exponential growth. All cell lines were derived from cells recovered from colonies that had grown in semisolid medium; cell lines originally treated with a chemical carcinogen produced nodules after s.c. inoculation into nude mice. G-banding analysis of 10 cell lines (including one ultraviolet light line) revealed that seven were chromosomally abnormal with structural and numerical chromosome alterations, one was characterized by a consistent trisomy, and the other two were normal diploid. Structural alterations consisted of chromosome deletions, translocations, and partial chromosome duplications. Although no common structural or numerical abnormality was detected, several structural alterations were observed involving chromosomes 1, 7, 11, and 22, where fgr, erb-B, H-ras-1, and sis ...
View Notes - Cyto-str from GENE 310 at Texas A&M. CYTOGENETICS; CHROMOSOMAL ABERRATIONS PART II: Structural Changes in Chromosomes There are 4 common types of structural aberrations; duplications,
BACKGROUND AND OBJECTIVE: Cytogenetic analysis of acute leukemia yields important information which has been demonstrated to be correlated to patient survival. A reference laboratory was created in order to perform karyotype analysis on all cases of acute leukemia enrolled in the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) protocols. METHODS: From January 1990 to December 1995, 1115 samples of children with ALL or AML were sent in for cytogenetic analysis. The results of cell cultures were screened in the Reference Laboratory and then the fixed metaphases were sent to one of the six cytogenetic laboratories for analysis. RESULTS: The leukemic karyotypes of 556 patients were successfully analyzed. An abnormal clone was detected in 49% of cases of ALL and in 66% of AML. In ALL the most frequent abnormality was 9p rearrangement. Other recurrent abnormalities were t(9;22), t(4;11) and t(1;19). In AML t(8;21), t(15;17) and 11q23 rearrangement were the most frequent structural ...
Background: AML is a clinically and genetically heterogeneous clonal disorder. Approximately 50% are characterized by recurrent clonal chromosome aberrations which have contributed to the classification of disease and are recognized as important prognostic factors. AML patients who lack these recurrent structural abnormalities have been grouped as "intermediate cytogenetic risk" and are being further subcategorized by the sequence alterations that are being identified. A more complete understanding of the genetic changes that are relevant to the pathogenesis of AML will improve the classification of risk and ultimately better selection of therapy. Our hypothesis is that mutational profiling and analysis of patient outcomes will help better define the risk subgroups of patients and predict prognosis in patients with AML.. Methods: Archived DNA from 37 patients with various AML diagnoses were obtained with IRB approval (IRB#201502763). A panel of 30 commonly mutated genes in AML were designed ...
In terms of the sheer number of cases, genetic factors are the most important cause of congenital anomalies. It has been estimated that they cause approximately one third of all birth defects (see Fig. 19-1) and nearly 85% of anomalies with known causes. Any mechanism as complex as mitosis or meiosis may occasionally malfunction; thus, chromosomal aberrations are common and are present in 6% to 7% of zygotes. Many of these early embryos never undergo normal cleavage to become blastocysts. The changes may affect the sex chromosomes, the autosomes, or both (chromosomes other than sex chromosomes). In some instances, both kinds of chromosome are affected. Persons with chromosomal abnormalities usually have characteristic phenotypes, such as the physical characteristics of infants with Down syndrome. Numerical and structural changes occur in chromosome complements." - in Before We Are Born, Keith Moore and T. V. N. Persaud ...
SNP-A technology, with its improved resolution and ability to detect UPD, increases the overall detection rate of chromosomal abnormalities and complements metaphase cytogenetics (MC) in the delineation of chromosomal lesions associated with hematologic malignancies. Recently, we and others have shown that in MDS, MDS/MPD, and MDS-derived AML, previously unrecognized chromosomal defects detected by SNP-A have similar effect on prognostic variables including overall survival as those lesions detected by MC ( 7, 9). In addition to its potential clinical implications, SNP-A karyotyping is also an excellent investigative tool, facilitating delineation of invariant chromosomal defects and, in turn, corresponding genes that may be implicated in the pathogenesis of hematologic malignancies.. Using 250K SNP-A and CNAG v3.0 software, we have identified in a large cohort of patients with MDS, MDS/MPD, MPD, and AML, a significant proportion of UPD, particularly in MDS/MPD. Often times, overlapping regions ...
Do You Have Chromosome Abnormality Disorders? Join friendly people sharing true stories in the I Have Chromosome Abnormality Disorders group. Find support forums, advice and chat with groups who share this life experience. Chromosome Abnormality Diso...
A hallmark of the transformed phenotype is altered chromosomal structure. The development and progression of lung cancer, one of the most common cancers, is driven by the interplay of genetic and epigenetic changes. Although there have been numerous studies on chromosomal aberrations in lung cancer, and cancer in general, broad assessment of chromatin structure information has been understudied, and its role in malignant transformation remains poorly characterized. Cancer progression is classified by tumor grade, which is determined by examining morphological changes that cells undergo as they de-differentiate. Given that chromosomal aberrations are well-documented in nearly all cancers, it is surprising that there is currently no information on the role of chromatin structure in the progression of cancer. We have identified chromatin-based patterns across different lung adenocarcinoma cancer grades.. To address the role of chromatin structure in the progression of cancer, we compared the ...
Investigating multiple samples (n={}25) from four patients we found an average of 5.6 ± 0.9 (mean ± SEM) chromosomal imbalances already present in DH. In the twelve DCIS lesions an average of 10.8 (±0.9) aberrations was identified with 14.8 (±0.8) aberrations in the four adjacent IDC lesions. The increasing number of chromosomal changes in parallel with the histopathological sequence corroborate the hypothesis, that the carcinomas may have developed through a sequential progression from normal to proliferative epithelium and eventually into carcinoma. However, heterogeneous results were identified in the multiple samples per entity from the same patient, demonstrated mainly in the DCIS samples in the chromosomal regions 6p, 9p, 11q, 16p and 17q, in the DH samples by 3p, 16p and 17q. This heterogeneous findings were most pronounced within the DH and was less in the DCIS and IDC samples. The only aberration consistently found in all samples - even in all DH samples - was amplification of the ...
An analysis of the chromosomal aberrations and DNA ploidy in the interphase nuclei of seven human osteosacomas was preformed by double-target fluorescence in situ hybridization (FISH) and DNA cytofluorometry. The FISH study of the numerical aberrations in chromosomes 1 and 17 or the structural aberrations in chromosome arm 1p or 17p was carried out by using four locus specific DNA markers, with one pair consisting of 1q12 and 1p36 and the other pair consisting of the 17 cemtromere and 17p13.3. There was no significant differences in the percentage of deletions in chromosome 1 and 17 between osteosarcomas and normal tissues ...
The chromosome damage in the peripheral circulating blood could be used as a biomarker to identify those with intestinal inflammation before they show any symptoms or suffer any distress. In the study, the chromosome damage could be detected in the blood before the onset of colitis in the mouse models the team studied, which were engineered to develop the inflammatory disorder, said Aya Westbrook, a graduate student of the UCLA Molecular Toxicology Interdepartmental Program and first author of the paper. She also noted that the severity of the disease correlated with higher levels of chromosome damage in the blood ...
Synopses of papers: The 187th Meeting of the Pathological Society of Great Britain and Ireland, The Robin Brook Centre, St. Bartholomews Hospital, London, 6-7 January 2005 ...
The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. In this review we compare the performance of different array platforms (BAC, oligonucleotide CGH, SNP) and designs (targeted, whole genome, whole genome, and targeted, custom) and discuss their advantages and disadvantages in relation to prenatal testing. We also discuss the factors to consider when implementing a microarray testing service for the diagnosis of fetal chromosomal aberrations.
European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics location:Barcelona, Spanje date:31 May-3 June, ...
46,Y,t(X;14;7)(q11;p11;q?21),t(1;8)(q21;p21),t(2;20)(p13;q13),t(5;16) (p13;q12),der(15)t(15;18)(q15;p11),der(17)t(17;18)(q23;q21),der(18)t (15;18)t(17;18)/46,Y,t(X;10)(p22;q21),t(2;5)(p23;q11),t(6;12)(q23;q21)/46, XY,der(1)t(1;17)(p31;q11)del(1)(q23),dup(1)(q21q?41),?add(6)(q25),t(7;8) (p11;q24),t(10;11)(p11;q23),?t(11;18)(p14;p11),?t(13;16)(q32;q22),t(14;22) (q22;q11),der(17)t(1;17)(p31;q11)/46,XY,inv(6)(p11p21),t(14;15)(p11;q22), inv(17)(q11q25)/46,XY,t(1;3)(q21;p21),t(1;5;13)(q21;q22;q22),t(2;16) (p13;q13),t(11;18)(q21;q21),del(15)(q24 ...
During the course of chronic myeloid leukemia (CML) progression to blast crisis (BC) is thought to be caused by genetic instability such as cytogenetic aberrations in addition to the translocation t(9;22)(q34;q11). We have shown previously that major route ACA indicate an unfavorable outcome (Fabarius et al., Blood 2011). We now investigate whether there is a correlation in time between...
Principal Investigator:SUZUKI Fumio, Project Period (FY):1998 - 2000, Research Category:Grant-in-Aid for Scientific Research (B)., Section:一般, Research Field:環境影響評価(含放射線生物学)
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.: Recent molecular cytogenetic data have shown
Chromosomal Abnormality Definition - A chromosomal abnormality is when a person, embryo, or fetus is missing a chromosome, has an extra chromosome, or...
CHRTI : Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities                                                                                                       Subsequent chromosome analysis when results from peripheral blood are inconclusive
T-cell and B-Cell Activation - Components of the adaptive immune system with the main function to secrete antibodies upon activation. T-cells play a central role in controlling and shaping the immune response. Both cell types are critical for the development of several diseases.. According to recent research tumor induced T cell exhaustion plays a role in cancer relapse. Epigenetic regulation is essential for differentiation and function of immune cells and aberrations may result in loss of immune function, which might contribute to disease.. ...
Our research aims to unravel the biological significance that the different levels of DNA compaction structures and components have on chromosome condensation and DNA processes in the nucleus. We believe that this research will contribute to the understanding of different important themes like cell division, cancer, stem cells, chromosome alterations, fertility and, plant and animal, breeding.
Karyotyping Karyotype Chromosomal aberration Size-ordered chart of the metaphase chromosomes of an individual cell Chromosomal aberration A mutation that is large enough to see under a light microscope
I have read recently that at high concentrations of LSD produced chromosome damage and was mutagenic. So its a weakly mutagenic. Does that mean at the concentration people take it at it would do slight damage or what about for people who take it a lot.
Learn more about Screening for and Diagnosing Chromosomal Abnormalities at Kendall Regional Medical Center Main Page Risk Factors ...
Learn more about Chromosomal Abnormalities at Good Samaritan Hospital Main Page Risk Factors Symptoms ...
Sequencing- and microarray-based technologies offer complementary approaches for identifying chromosomal abnormalities in cancer.
... cause abnormalities, often in the sense that several typical organ malformations combine. A lower IQ is also often found.
Sometimes chromosomal abnormalities occur that alter the normal development of an unborn baby. There are a wide variety of abnormalities. Learn about them in this article.
A chromosomal abnormality has definitive prognostic and predictive value for managing the treatment of adult patients with a a rare type of brain tumor
If you choose Structural Aberrations, you must select at least one of the following fields: Breakpoint, Topography, Morphology, or Gene ...
Keywords: hi, im looking for any aberrations (deficiencies, translocations, inversions, EMS mutations, etc.) at 80B-C. Does anyone have anything in this region? thanks. mark ...
In an ideal optical system, all rays of light from a point in the object plane would converge to the same point in the image plane, forming a clear image. The influences which cause different rays to converge to different points are called aberrations. ...
Chromosomes are single pieces of coiled DNA that contain sequences of nucleotides that encode our genes. Genes are coding sequences or sets of instructions that tell our bodies how to develop and function. The typical number of chromosomes in our cells is 46: 23 which come from the biological mother (egg) and 23 come from…
The culture was initiated from explants of minced skin tissue. Cell morphology is fibroblast-like. The culture is a mosaic with karyotype 45,X/ 46,XX; 8%/92% with 10% of the cells examined showing random chromosome loss and 4% showing random chromosomal aberrations. ...
Hi everyone, Looking for a bit of reassurance. Am currently 13 weeks pregnant. Had my 12 week ultrasound along with combined blood test to check for
This test measures structural chromosomal aberrations (both chromosome- and chromatid-type) in dividing spermatogonial germ cells and is, therefore, expected to be predictive of induction of heritable mutations in these germ cells. The purpose of the in vivo mammalian spermatogonial chromosomal aberration test is to identify those chemicals that cause structural chromosomal aberrations in mammalian spermatogonial cells (1) (2) (3). In addition, this test is relevant to assessing genetoxicity because, although they may vary among species, factors of in vivo metabolism, pharmacokinetics and DNA-repair processes are active and contribute to the response. The original Test Guideline 483 was adopted in 1997. This modified version of the Test Guideline reflects many years of experience with this assay and the potential for integrating or combining this test with other toxicity or genotoxicity studies.
Detection of numerical chromosomal aberrations in paraffin-embedded malignant mesothelioma by non-isotopic **in situ** hybridization ...
TY - JOUR. T1 - Translocation t(12;19)(q13;q13.3). A new recurrent abnormality in acute nonlymphocytic leukemia with atypical erythropoiesis. AU - Paietta, Elisabeth M.. AU - Papenhausen, Peter. AU - Gucalp, Rasim A.. AU - Wiernik, Peter H.. PY - 1988. Y1 - 1988. N2 - A new reciprocal, apparently balanced translocation between chromosomes 12 and 19, t(12;19)(q13;q13.3), was detected in 5% ( 3 59) of patients with FAB M1 or M2 acute nonlymphocytic leukemia. In either case, this translocation was part of complex but different cytogenetic abnormalities. None of the patients had a significant response to therapy. In one instance, however, the translocation was found at first relapse after 2 years of complete remission, and no information regarding the karyotype at disease onset was available. Hematologically common to these patients were marked marrow erythroid hyperplasia and severely abnormal erythropoiesis despite normal serum B12 and folate levels. A direct association between t(12;19) and these ...
Background: When abnormalities are found during the anatomy scan most patients are offered amniocentesis and conventional karyotyping, using Giemsa (G)-banding of metaphase chromosomes to detect aneuploidies and large structural changes in the prenatal diagnosis. The use of fluorescent in situ hybridization (FISH) reduces the time to obtain a result because culture is not necessary, but can only detect a limited number of prespecified targets. Small studies have shown that array comparative genomic hybridization (aCGH) can detect all unbalanced chromosomal abnormalities as well as smaller deletions and duplications that cannot be detected with routine cytogenetic analysis. Should aCGH screening be used instead of karyotyping to diagnose prenatal chromosomal abnormalities in pregnant patients with abnormal ultrasound? Methods: An exhaustive search of available medical literature from the past 5 years was conducted using Medline-OVID, CINAHL, Web of Science. Key words included: comparative genomic
Our results show that markers of exposure to naphthalene in young children are associated with translocations and stable chromosomal aberrations in lymphocytes in a dose-related manner. Childhood is a period of heightened susceptibility when exposure to environmental toxins can result in molecular changes that act as determinants for later disease. Exposures to low levels of common environmental toxins such as naphthalene during key periods of development may increase long-term risk of disease. Chromosomal aberrations in lymphocytes are used as a biodosimeter of protracted personal exposure to low-dose radiation (37) and of occupational exposure to genotoxins (31). Air levels of PAHs predict chromosomal aberrations in occupationally exposed adults (30). In studies on older children (8-19 years), frequencies of chromosomal aberrations correlate with levels of ambient pollutants (40). Translocations, the most persistent aberrations (half-life, 2-4 years), are a biodosimeter of low-dose clastogenic ...
Structural chromosome abnormalities occur when there is a change in the structure or components of a chromosome. The total number of chromosomes is usually normal (46 total per cell). Structural chromosome abnormalities occur when part of a chromosome is missing, a part of a chromosome is extra, or a part has switched places with another part. Ultimately, this leads to having too much or too little genetic material, which is a cause of some birth defects.. Each chromosome has many segments which are usually divided into a "short arm" and a "long arm" of the chromosome. The short arm, which is the upper half of the chromosome, is known as the "p arm," and the long arm, which is the lower half of the chromosome, is the "q arm." The centromere is the center part of a chromosome that appears "pinched" between the p and q arms.. ...
Mosaic structural chromosomal abnormalities observed along the trophoblast-mesenchyme-fetal axis, although rare, pose a difficult problem for their prognostic interpretation in prenatal diagnosis. Additional issues are raised by the presence of mosaic imbalances of the same chromosome showing different sizes in the different tissues, that is, deletions and duplications in the cytotrophoblast and mesenchyme of chorionic villi (CV). Some of these cytogenetic rearrangements originate from the post-zygotic breakage of a dicentric chromosome or of the product of its first anaphasic breakage. Selection of the most viable cell line may result in confined placental mosaicism of the most severe imbalance, favoring the presence of the cell lines with the mildest duplications or deletions in the fetal tissues. We document three cases of ambiguous results in CV analysis due to the presence of different cell lines involving structural rearrangements of the same chromosome which were represented differently ...
TY - JOUR. T1 - Complex chromosome rearrangements. Report of a new case and literature review. AU - Pai, G. S.. AU - Thomas, G. H.. AU - Mahoney, W.. AU - Migeon, Barbara R. PY - 1980. Y1 - 1980. N2 - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.. AB - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to ...
Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in communication abilities, and repetitive and stereotyped interests and activities. ASD is prevalent in 1 to 3 per 1000 people. Despite several arguments for a strong genetic contribution, the molecular basis of a most cases remains unexplained. About 5% of patients with autism have a chromosome abnormality visible with cytogenetic methods. The most frequent are 15q11-q13 duplication, 2q37 and 22q13.3 deletions. Many other chromosomal imbalances have been described. However, most of them remain undetectable using routine karyotype analysis, thus impeding diagnosis and genetic counselling.. Methods and results: 29 patients presenting with syndromic ASD were investigated using a DNA microarray constructed from large insert clones spaced at approximately ...
It was concluded that H-CB is not mutagenic in the bacterial reverse mutation assay (JAPAN: Guidelines for Screening Mutagenicity Testing Of Chemicals) carried out under the experimental conditions. The test material did not induce any statistically significant, dose-related increases in the frequency of cells with structural or numerical chromosome aberrations either in the presence or absence of a liver enzyme metabolising system or after various exposure times. The test material was therefore considered to be non-c1astogenic to CHL cells in vitro (OECD Guideline 473 (In vitro Mammalian Chromosome Aberration Test)). The test material was not mutagenic to L5178Y cells following a 4-hour exposure in the absence and presence of metabolic activation under the conditions of the test. However, the test material was considered to be mutagenic to L5178Y cells following a 24-hour exposure in the absence of metabolic activation at dose levels with significant levels of test material-induced toxicity ...
Folinic acid (FA), clinically called leucovorin, has been widely used as a nutrient supplement in dietary intake and is capable of inhibiting cytotoxicity and chromosomal damage induced by chemicals. However, data on its antigenotoxic effect on radiation-induced chromosomal damage are limited. The present study was, therefore, performed to investigate the effect of FA on radiation-induced (X-rays and UV radiation) micronuclei (MN) and structural chromosomal aberrations (SCA) concurrently in V79 Chinese hamster lung cells. Exponentially growing cells were exposed to five doses of X-rays (1-12 Gy) and UV radiation (50-800 microJ x 10(2)/cm2) and post-treated with 5 or 50 micrograms FA/ml of culture medium for 16 h. The slides were analyzed for the presence of MN and SCA using standard procedures. X-ray treatment alone produced dose-related cytotoxicity. X-rays produced a clear dose-related clastogenicity as measured by percent of micronucleated binucleated cells (MNBN) (5-79%) and percent of ...
Objective: To investigate underlying genetic events associated with complex DNA ploidy breast carcinomas.. Methods: Screening for chromosome imbalances was carried out using comparative genomic hybridisation (CGH) in 14 frozen samples of tumour from a series of 13 breast cancer patients with multiploid (n = 11) and hypertetraploid (n = 2) tumours. They had previously been analysed by DNA flow cytometry and also assessed immunohistochemically for p53 tissue expression. Ploidy status was determined on frozen samples using the Multicycle software program.. Results: The total number of copy gains (n = 242) was significantly greater than the number of copy losses (n = 51). The mean (SD) number of gains per sample was 17.3 (5.7), and of losses, 3.6 (4.2) (p = 0.0001). Gains of chromosomal regions at 1q (14/14; 100%), 7q (12/14; 85.7%), and 3q (11/14; 78.6%), as well as 1p, 2q, 5p, 8q, and 13q (10/14; 71.4%) were the most frequent aberrations in this series. Losses were most commonly found on 17p ...
However, as the eye ages from the young adulthood (20-30 years) to the elderly (60-80 years) it becomes more aberrated on average. In particular, the spherical aberration (SA) of the eye tends to increase in older eyes. Similarly, a significant increment of horizontal coma and other third-order aberrations has been reported. In a previous work (Artal et al., 2002), we showed that a progressive disruption of the corneal-internal aberrations balance was the primary source of increment of ocular aberrations in older eyes. However, the underlying causes of this mechanism remain unclear. To answer the question, it is necessary to improve our understanding about how ocular aberrations are generated and how the compensation mechanism works. Ocular aberrations may have an intrinsic origin related to the shape of the surfaces or the profile of the refractive index, or an angular origin associated with the alignment of the optical components. The combination of intrinsic factors makes the cornea of a ...
Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. Chromosome 8 abnormalities, namely losses of 8p (8p-) and gains of 8q (8q+) have been suggested to aggravate the outcome of patients with TP53abs. However, the reported series were small, thus hindering definitive conclusions. To gain insight into this issue, we assessed a series of 101 CLL patients harboring TP53 disruption. The frequency of 8p- and 8q+ was 14.7% and 17.8% respectively. Both were associated with a significantly (P , 0.05) higher incidence of a complex karyotype (CK, ,= 3 abnormalities) detected by chromosome banding analysis (CBA) compared to cases with normal 8p (N-8p) and 8q (N-8q), respectively. In univariate analysis for 10- year overall survival (OS), 8p- (P = 0.002), 8q+ (P = 0.012) and CK (P = 0.009) were associated with shorter OS. However, in multivariate analysis only CK (HR = 2.47, P = 0.027) ...
TY - JOUR. T1 - Whole Exome and Transcriptome Sequencing in 1042 Cases Reveals Distinct Clinically Relevant Genetic Subgroups of Follicular Lymphoma. AU - Li, Xiang. AU - Kositsky, Rachel. AU - Reddy, Anupama. AU - Love, Cassandra. AU - Naresh, Kikkeri. AU - Koff, Jean L.. AU - Nystrand, Ilja. AU - Leppä, Sirpa. AU - Pasanen, Annika. AU - Karjalainen-Lindsberg, Marja Liisa. AU - Dunkel, Johannes. AU - Kovanen, Panu. AU - Qin, Qiu. AU - Bhagat, Govind. AU - Leeman-Neill, Rebecca J.. AU - Goswami, Rashmi S.. AU - Wildeman, Sarah. AU - Delabie, Jan. AU - Burack, Richard. AU - Evans, Andrew G.. AU - Amador, Catalina. AU - Yuan, Ji. AU - Qureishi, Hina Naushad. AU - Li, Shaoying. AU - Xu, Jie. AU - Yin, C. Cameron. AU - Gang, Anne Ortved. AU - Norgaard, Peter H.. AU - Pedersen, Mette. AU - Chan, Jason Yongsheng. AU - Cheah, Daryl Ming Zhe. AU - Ong, Shin Yeu. AU - Cheng, Chee Leong. AU - Lee, Lianne. AU - Paulua, Felik. AU - Ondrejka, Sarah L.. AU - Hsi, Eric D.. AU - Czader, Magdalena. AU - Wang, ...
Chromosome changes in the bone marrow (BM) of patients with persistent cytopenia are often considered diagnostic for a myelodysplastic syndrome (MDS). Comprehensive cytogenetic evaluations may give evidence of the real pathogenetic role of these changes in cases with cytopenia without morphological signs of MDS. Chromosome anomalies were found in the BM of three patients, without any morphological evidence of MDS: 1) an acquired complex rearrangement of chromosome 21 in a boy with severe aplastic anaemia (SAA); the rearrangement caused the loss of exons 2-8 of the RUNX1 gene with subsequent hypoexpression. 2) a constitutional complex rearrangement of chromosome 21 in a girl with congenital thrombocytopenia; the rearrangement led to RUNX1 disruption and hypoexpression. 3) an acquired paracentric inversion of chromosome 1, in which two regions at the breakpoints were shown to be lost, in a boy with aplastic anaemia; the MPL gene, localized in chromosome 1 short arms was not mutated neither disrupted, but
Comparative genomic hybridization (CGH) is a technique used to detect unbalanced chromosome rearrangements based on the use o f in situ hybridization of differentially labeled DNA. This technique can be used to analyze complex clinical cases which have constitutional chromosomal abnormalities that do not lend themselves to routine chromosomal analysis. CGH was examined in order to develop a reliable and reproducible protocol that can be used as an additional diagnostic tool in Shodair Hospitals clinical lab. CGH involves the isolation o f both test and reference DNA and the differentially labeling o f the different DNA with fluorescent probes. Then those samples o f DNA were hybridized onto a normal metaphase spread. The slide was examined under a fluorescent microscope and analyzed using Perceptive Scientific Instruments MacProbe fluorescent imaging software. It appears that a slightly modified version o f the published Vysis Protocol (1998) yields the best CGH results in our clinical diagnostic
High hyperdiploid acute lymphoblastic leukemia ( ALL) is one of the most common malignancies in children. It is characterized by gain of chromosomes, typically +X, +4, +6, +10, +14, +17, +18, and +21, +21; little is known about additional genetic aberrations. Approximately 20% of the patients relapse; therefore it is clinically important to identify risk-stratifying markers. We used SNP array analysis to investigate a consecutive series of 74 cases of high hyperdiploid ALL. We show that the characteristic chromosomal gains are even more frequent than previously believed, indicating that karyotyping mistakes are common, and that almost 80% of the cases display additional abnormalities detectable by SNP array analysis. Subclonality analysis strongly implied that the numerical aberrations were primary and arose before structural events, suggesting that step-wise evolution of the leukemic clone is common. An association between duplication of 1q and +5 was seen ( P = 0.003). Other frequent ...
TY - CHAP. T1 - Induction of chromosome damage by ultraviolet light and caffeine. T2 - Correlation of cytogenetic evaluation and flow karyotype. AU - Cremer, C.. AU - Cremer, T.. AU - Gray, Joe. PY - 1982. Y1 - 1982. UR - http://www.scopus.com/inward/record.url?scp=0020062161&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0020062161&partnerID=8YFLogxK. M3 - Chapter. C2 - 7075394. AN - SCOPUS:0020062161. VL - 2. SP - 287. EP - 290. BT - Cytometry. ER - ...
Results Screening 16 different regions we detected additional genomic aberrations in 92% of the cases of mantle cell lymphoma. Common gains included 3q26, 8q24, 15q23, 7p15, and common losses 13q14, 11q22-q23, 9p21, 1p22, 17p13, 6q27, and 8p22. Deletions 8p22, 9p21, 13q14, and gain of 7p15 were associated with evidence of clonal heterogeneity. While there was no correlation of additional genomic aberrations and VH-mutation status, gain of 15q23 and deletion 6q27 were associated with lower disease stage (p=0.01 and p=0.04, respectively). Patients with deletion 13q14 had shorter overall survival times (p=0.01), and there was a strong trend towards inferior outcome in patients with deletion 9p21 (p=0.07). In multivariable analysis, loss of 13q14 and an International Prognosis Index score ≥ 3 turned out to be significantly associated with inferior clinical outcome (p=0.002 and p,0.001, respectively). ...
Using an integrative genomics approach called amplification breakpoint ranking and assembly analysis, we nominated KRAS as a gene fusion with the ubiquitin-conjugating enzyme UBE2L3 in the DU145 cell line, originally derived from prostate cancer metastasis to the brain. Interestingly, analysis of tissues revealed that 2 of 62 metastatic prostate cancers harbored aberrations at the KRAS locus. In DU145 cells, UBE2L3-KRAS produces a fusion protein, a specific knockdown of which attenuates cell invasion and xenograft growth. Ectopic expression of the UBE2L3-KRAS fusion protein exhibits transforming activity in NIH 3T3 fibroblasts and RWPE prostate epithelial cells in vitro and in vivo. In NIH 3T3 cells, UBE2L3-KRAS attenuates MEK/ERK signaling, commonly engaged by oncogenic mutant KRAS, and instead signals via AKT and p38 mitogen-activated protein kinase (MAPK) pathways. This is the first report of a gene fusion involving the Ras family, suggesting that this aberration may drive metastatic ...
Translocations of a whole chromosome or a chromosome arm have been reported in both normal and abnormal liveborns. Often the abnormal phenotypes could not be explained by the genetic defects of the specific chromosome findings. Warburton et al. described an autosomal anomaly, tdic(12;14), showing gonadal dysgenesis; Pallister et al. described a patient with multiple congenital anomalies and mental retardation who had a normal karyotype in her fibroblasts. The whole chromosome translocation (6;19) was found in her lymphocytes only. Various genetic explanations have been proposed, including undetected lesions, position effects, mutations at the sites of breakage and union, and aneusomy by recombination. Perhaps the whole chromosome translocation per se were not responsible for the malformations, since they were not necessarily found in cells of the deformed organs, or if they were, the abnomalities were not always explained by aberrations of the specific chromsomes involved in the ...
CMAMT : Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities   Diagnosing chromosomal causes for fetal death   Determining recurrence risk of future pregnancy losses   Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected previously by other methods such as conventional chromosome and FISH studies   Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray
Stocks: Flies were raised on a cornmeal-molasses-yeast-agar medium containing Tegosept and propionic acid at 25°. Mutations and chromosome aberrations are described in Lindsley and Zimm (1992) unless otherwise noted. brm1 and brm2 are described in Kennison and Tamkun (1988) and Brizuela et al. (1994). Df(3L)th102 deletes polytene chromosome region 72A1;72D12, including brm. The FLP and FRT stocks (Xu and Rubin 1993), UAS-lacZ reporter 4-2-4B (Brand and Perrimon 1993), and IJ3 and 69B GAL4 insertion lines (Brand and Perrimon 1993) used in this study were obtained from the Bloomington Stock Center (Indiana University, Bloomington, IN). The e16E GAL4 insertion line is described in Harrison et al. (1995). y w P[ry+, hsFLP]12 was generously provided by T.-B. Chou and N. Perrimon.. Production of antibodies against the BRM protein: Polyclonal rabbit antisera were raised against glutathione S-transferase (GST) fusion proteins containing amino acids 1504-1638 or 505-775 of the BRM protein (Figure 1). ...
SUMMARY. Chromosome rearrangements that have been described in malignant processes are structural and numerical. Structural rearrangements produce marker chromosomes. The most remarkable instance is the Philadelphia chromosome (Ph1) present in chronic myelogenous leukemia. Other markers are known, but their specificity is not yet well established. Numerical changes may lead to complete karyotype upheaval. Yet, in favorable conditions-mostly during acute exacerbation of chronic myelogenous leukemia-numerical changes can be shown to represent systematic karyotypic evolutions. These clonal evolutions proceed according to certain patterns, and seven models have been proposed, depending on their degree of complexity. The mechanisms involved are acquisition and duplication of extra chromosomes, loss of chromosomes, acquisition of marker chromosomes, or a combination of different mechanisms.. A general theory is discussed. Chromosome rearrangements would be the common pathway by which carcinogenic ...
The malignant cells in many patients with leukemia, lymphoma, or another malignant hematologic disease have acquired clonal chromosomal abnormalities. Some specific cytogenetic abnormalities are closely, and sometimes uniquely, associated with morpho
New research suggests that there may be five distinct subgroups of head and neck cancer in which specific genetic profiles may be utilized to guide treatment decisions in patients.
Chromosomal aberrations in solid tumors appear in complex patterns. It is important to understand how these patterns develop, the dynamics of the process, the temporal or even causal order between aberrations, and the involved pathways. Here we present network models for chromosomal aberrations and algorithms for training models based on observed data. Our models are generative probabilistic models that can be used to study dynamical aspects of chromosomal evolution in cancer cells. They are well suited for a graphical representation that conveys the pathways found in a dataset. By allowing only pairwise dependencies and partition aberrations into modules, in which all aberrations are restricted to have the same dependencies, we reduce the number of parameters so that datasets sizes relevant to cancer applications can be handled. We apply our framework to a dataset of colorectal cancer tumor karyotypes. The obtained model explains the data significantly better than a model where independence ...
Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. As cells divide, they can make errors that lead to a gain or loss of chromosomes, which is usually very harmful.. For the first time, MIT biologists have now identified a mechanism that the immune system uses to eliminate these genetically imbalanced cells from the body. Almost immediately after gaining or losing chromosomes, cells send out signals that recruit immune cells called natural killer cells, which destroy the abnormal cells.. The findings raise the possibility of harnessing this system to kill cancer cells, which nearly always have too many or too few chromosomes.. "If we can re-activate this immune recognition system, that would be a really good way of getting rid of cancer cells," says Angelika Amon, the Kathleen and Curtis Marble Professor in Cancer Research in MITs Department of Biology, a member of the Koch Institute for Integrative Cancer Research, and the senior author of the ...
Treatments for Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Balanced chromosome abnormalities (BCAs) occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD) and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14) that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and
TY - JOUR. T1 - Mouse embryonic fibroblasts null for the Krüppel-like factor 4 gene are genetically unstable. AU - Hagos, E. G.. AU - Ghaleb, A. M.. AU - Dalton, William. AU - Bialkowska, A. B.. AU - Yang, V. W.. PY - 2009/3/5. Y1 - 2009/3/5. N2 - Krüppel-like factor 4 (KLF4) is a zinc-finger transcription factor with tumor suppressive activity in colorectal cancer. Here, we investigated whether KLF4 is involved in maintaining genetic stability in mouse embryonic fibroblasts (MEFs) isolated from mice wild type (+/+), heterozygous (+/-), or homozygous (-/-) for the Klf4 alleles. Compared to Klf4+/+ and Klf4+/- MEFs, Klf4-/- MEFs had both a higher level of apoptosis and rate of proliferation. Quantification of chromosome numbers showed that Klf4-/- MEFs were aneuploid. A higher number of Klf4 -/- MEFs exhibited γ-H2AX foci and had higher amounts of γ-H2AX compared to controls. Cytogenetic analysis demonstrated the presence of numerous chromosome aberrations including dicentric chromosomes, ...
The API2-MALT1 fusion gene was originally identified from a t(11;18)(q21;q21) translocation, a specific chromosomal abnormality that is found in mucosa-associated lymphoid tissue (MALT) lymphoma. Gastric MALT lymphomas positive for the API2-MALT1 fusion gene do not respond to Helicobacter pylori-eradication therapy, but otherwise, the incidence and clinicopathological behavior of colorectal MALT ...
(2005) Lai et al. Bioinformatics. MOTIVATION: Array Comparative Genomic Hybridization (CGH) can reveal chromosomal aberrations in the genomic DNA. These amplifications and deletions at the DNA level are important in the pathogenesi...
Comparative genomic hybridization analysis of adrenocortical tumors.: Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that allows t
Looking for online definition of comparative genomic hybridization in the Medical Dictionary? comparative genomic hybridization explanation free. What is comparative genomic hybridization? Meaning of comparative genomic hybridization medical term. What does comparative genomic hybridization mean?
TY - JOUR. T1 - 1-Mb resolution array-based comparative genomic hybridization using a BAC clone set optimized for cancer gene analysis. AU - Greshock, Joel. AU - Naylor, Tara L.. AU - Margolin, Adam. AU - Diskin, Sharon. AU - Cleaver, Stephen H.. AU - Futreal, P. Andrew. AU - deJong, Pieter J.. AU - Zhao, Shaying. AU - Liebman, Michael. AU - Weber, Barbara L.. PY - 2004/1/1. Y1 - 2004/1/1. N2 - Array-based comparative genomic hybridization (aCGH) is a recently developed tool for genome-wide determination of DNA copy number alterations. This technology has tremendous potential for disease-gene discovery in cancer and developmental disorders as well as numerous other applications. However, widespread utilization of aCGH has been limited by the lack of well characterized, high-resolution clone sets optimized for consistent performance in aCGH assays and specifically designed analytic software. We have assembled a set of ∼4100 publicly available human bacterial artificial chromosome (BAC) clones ...
RESULTS. Fluorescence in-situ hybridisation detected 558 (9.5%) patients with chromosomal abnormalities. Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity and specificity were 99.3% and 99.9%, respectively. When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to 86.8%, whereas the specificity remained at 99.9%. Of 643 cases with karyotype abnormalities, 85 were fluorescence in-situ hybridisation-negative (false negative rate, 13.2%), which included structural rearrangements, chromosome mosaicism, and other trisomies. Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural rearrangements, mosaicisms, and other trisomies ...
TY - JOUR. T1 - Chromosomal aberrations and common fragile sites in neuroblastoma patients. AU - Vernole, P.. AU - Tedeschi, B.. AU - Pianca, C.. AU - Nicoletti, B.. AU - Riccardi, R.. AU - Melino, G.. PY - 1990. Y1 - 1990. N2 - We analyzed cytogenetically blood cells and bone marrow cells from 20 neuroblastoma patients. Chromosome common fragile sites were induced by aphidicolin in normal peripheral blood lymphocytes. All neuroblastoma patients showed a higher increase of aberrations after aphidicolin treatment as compared to that found in normal controls. In some cases it was possible to correlate the increase of the expression of a specific fragile site, 1p32, with deletions in the same area in bone marrow cells.. AB - We analyzed cytogenetically blood cells and bone marrow cells from 20 neuroblastoma patients. Chromosome common fragile sites were induced by aphidicolin in normal peripheral blood lymphocytes. All neuroblastoma patients showed a higher increase of aberrations after aphidicolin ...
Hepatosplenic T-cell lymphoma is a rare, clinically aggressive lymphoma. Most cases represent a neoplasm of mature non-activated γδ T cells. Isochromosome 7q i(7)(q10) is thought to be the primary cytogenetic abnormality of this disease. In this paper, we describe a hepatosplenic γδ T-cell lymphoma case, with clonal ring chromosome 7 exemplifying an isochromosome 7q equivalent clonal aberration. A 62-year-old female patient presented with thrombocytopenia, isolated hepatosplenomegaly, and extremely high levels of LDH. Bone marrow work-up demonstrated a sinusoidal cytotoxic T-cell infiltrate with blastic features, while molecular studies verified monoclonal rearrangement for both TCR γ and TCR δ genes. Cytogenetics revealed clonal abnormalities including ring chromosome 7, trisomy 8, and der(19), while FISH analysis detected 7q amplification with partial deletion of 7p in ring chromosome 7. To the best of our knowledge, this is the first reported T-cell lymphoma case with ring chromosome 7.
The genetic mechanisms of prostate cancer recurrence during hormonal therapy are largely unknown. So far, data from conventional karyotype analysis on hormone-refractory prostate carcinomas have not been published, mainly because of the difficulties in obtaining fresh hormone-refractory prostate carcinoma samples and getting metaphases from them. Here, we have studied chromosomal changes in 12 locally recurrent, hormone-refractory prostate carcinomas using karyotyping and CGH that revealed genetic aberrations in all tumors. Loss of the Y chromosome was the most common (89%) finding, and tetraploidy or near-tetraploidy was detected in all tumors. Also non-random translocations were found in 56% of the tumors. The present study indicates that clonal chromosomal aberrations in hormone-refractory prostate carcinomas are more common than in untreated primary tumors, and also, further studies on the frequency and significance of translocations in prostate carcinoma progression during hormonal therapy are
OBJECTIVE: During IVF, non-transferred embryos are usually selected for cryopreservation on the basis of morphological criteria. This investigation evaluated an application for array comparative genomic hybridization (aCGH) in assessment of surplus embryos prior to cryopreservation. METHODS: First-time IVF patients undergoing elective single embryo transfer and having at least one extra non-transferred embryo suitable for cryopreservation were offered enrollment in the study. Patients were randomized into two groups: Patients in group A (n=55) had embryos assessed first by morphology and then by aCGH, performed on cells obtained from trophectoderm biopsy on post-fertilization day 5. Only euploid embryos were designated for cryopreservation. Patients in group B (n=48) had embryos assessed by morphology alone, with only good morphology embryos considered suitable for cryopreservation. RESULTS: Among biopsied embryos in group A (n=425), euploidy was confirmed in 226 (53.1%). After fresh single embryo