Chromosome mutations are the cause of many genetic diseases in humans. Cancer is associated with alterations in oncogenes and tumor suppressor genes. The mammalian in vivo chromosome aberration test is used for the detection of structural chromosome aberrations induced by test compounds in bone marrow cells of animals. Rats, mice and Chinese hamsters are commonly used.  The two types of structural chromosome aberrations are chromosome or chromatid. There are several criteria for determining a positive result, such as a dose-related increase in the relative number of cells with chromosome aberrations. Animals are exposed to the test compound and are treated with a metaphase-arresting agent (e.g., colchicine or Colcemid®) prior to euthanasia at appropriate times after treatment.  Bone marrow cells are harvested and stained, and metaphase cells are analyzed for chromosome aberrations. Each treated and control group must include at least 5 analyzable animals per sex. The limit dose for treatment

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 ...

TY - JOUR. T1 - Co-regulation analysis of closely linked genes identifies a highly recurrent gain on chromosome 17q25.3 in prostate cancer. AU - Bermudo, Raquel. AU - Abia, David. AU - Ferrer, Berta. AU - Nayach, Iracema. AU - Benguria, Alberto. AU - Zaballos, Ángel. AU - del Rey, Javier. AU - Miró, Rosa. AU - Campo, Elías. AU - Martínez-A, Carlos. AU - Ortiz, Ángel R.. AU - Fernández, Pedro L.. AU - Thomson, Timothy M.. PY - 2008/10/30. Y1 - 2008/10/30. N2 - Background: Transcriptional profiling of prostate cancer (PC) has unveiled new markers of neoplasia and allowed insights into mechanisms underlying this disease. Genomewide analyses have also identified new chromosomal abnormalities associated with PC. The combination of both classes of data for the same sample cohort might provide better criteria for identifying relevant factors involved in neoplasia. Here we describe transcriptional signatures identifying distinct normal and tumoral prostate tissue compartments, and the inference ...

This report describes the results of an in vitro study for the detection of structural chromosomal aberrations in cultured mammalian cells. It supplements microbial systems insofar as it identifies potential mutagens that produce chromosomal aberrations rather than gene mutations (Scott et al, 1990). The method used followed that described in the OECD Guidelines for Testing of Chemicals (1997) No. 473 Genetic Toxicology: Chromosome Aberration Test and Method B10 of Commission Directive 2000/32/EC. The study design also meets the requirements of the UK Department of Health Committee on Mutagenicity Guidelines for the Mutagenicity Testing of Chemicals. Methods. Duplicate cultures of human lymphocytes, treated with the test material, were evaluated for chromosome aberrations at up to four dose levels, together with vehicle and positive controls. Four treatment conditions were used for the study, ie. experiment 1, 4 hours in the presence of an induced rat liver homogenate metabolising system (S9), ...

Chromosomal aberrations are efficiently induced by ionising radiation and contribute to a great extent to the development of cancer. Increased resolution of molecular cytogenetics along with the availability of cell lines and knockout mouse models sensitive to radiation, provide the basis for further unravelling of the mechanisms of formation of chromosomal aberrations. The proposal aims at studying the initial DNA damage, its repair and the biological factor influencing the ultimate yield of chromosomal aberrations. To reach this goal different strategies will be undertaken including exploitation of novel technologies, site-specific induction of DNA strand breaks and the use of cells with defined defects in repair. The outcome of this study will contribute to understanding of the mechanisms of chromosomal aberration formation and will ultimately help to extrapolate to the effects low doses and low dose-rates ...

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 review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal

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). ...

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.. ...

The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations.

The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations.

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 ...

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 ...

RESULTS: Samples from 9 malformed fetuses were analyzed successfully by CGH. Numerical chromosome aberrations were detected in samples from cases 4, 8 and 9, and were verified by fluorochrome-exchanged CGH. Trisomy 21q was detected in case 4, del 2p24-pter and dup 12p13 was detected in case 8, and del 1p33-pter and del 22q11-12 were detected in case 9 ...

Other reasons: Chromosome aberration study in vitro (Genetic Toxicity CAbvitro; Huntingdon Life Sciences, 2012, Study MOG0011) indicated the potential for HBPA to induce chromosome aberrations in mammalian cells. Although this result suggests a concern for genotoxic effects in humans, the available data do not permit a thorough assessment of the effect, nor are they sufficient to reach a conclusion on classification. In accordance with REACH Annex VIII Column 2 Section 8.4 it is considered that an in-vivo test assessing chromosome aberration in mammals is justified to more fully investigate the potential for harm to humans ...

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 ...

SP 387/TL1 was tested in an in vitro cytogenetics assay using duplicate human lymphocyte cultures prepared from the pooled blood of three female donors in two independent experiments. Treatments covering a broad range of concentrations, separated by narrow intervals, were performed both in the absence and presence of metabolic activation (S-9). The test article was formulated in sterile water for injection (purified water) and the highest concentration used, 5000 μg/mL, is an acceptable maximum concentration for in vitro chromosome aberration studies according to current regulatory guidelines. The chromosome aberration assay was used to evaluate the clastogenic potential of the test article. In Experiment 1, treatment in the absence and presence of S-9 was for 3 hours followed by a 17 hour recovery period prior to harvest (3+17). The S-9 used was prepared from a rat liver post-mitochondrial fraction (S-9) from Aroclor 1254 induced animals. The test article concentrations for chromosome analysis ...

SP 387/TL1 was tested in an in vitro cytogenetics assay using duplicate human lymphocyte cultures prepared from the pooled blood of three female donors in two independent experiments. Treatments covering a broad range of concentrations, separated by narrow intervals, were performed both in the absence and presence of metabolic activation (S-9). The test article was formulated in sterile water for injection (purified water) and the highest concentration used, 5000 μg/mL, is an acceptable maximum concentration for in vitro chromosome aberration studies according to current regulatory guidelines. The chromosome aberration assay was used to evaluate the clastogenic potential of the test article. In Experiment 1, treatment in the absence and presence of S-9 was for 3 hours followed by a 17 hour recovery period prior to harvest (3+17). The S-9 used was prepared from a rat liver post-mitochondrial fraction (S-9) from Aroclor 1254 induced animals. The test article concentrations for chromosome analysis ...

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 ...

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Its more than just the number of miscarriages that determines the likelihood of structural chromosome abnormalities, say researchers from the Netherlands. In couples who are trying to conceive and who have had two or more miscarriages, young maternal age at the time of a second miscarriage, a history of three or more miscarriages, and a history of two or more miscarriages in siblings or parents of either partner make the couple more likely to be carriers of such anomalies, according to the results of a nested case-control study.

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.

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...

Browse decades of harmonized childhood cancer data and discover how this multi-species repository accelerates the search for cures.

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)

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...

TY - JOUR. T1 - High-Resolution Genomic Arrays Facilitate Detection of Novel Cryptic Chromosomal Lesions in Myelodysplastic Syndromes. AU - OKeefe, Christine L.. AU - Tiu, Ramon. AU - Gondek, Lukasz P.. AU - Powers, Jennifer. AU - Theil, Karl S.. AU - Kalaycio, Matt. AU - Lichtin, Alan. AU - Sekeres, Mikkael A.. AU - Maciejewski, Jaroslaw P.. PY - 2007/2/1. Y1 - 2007/2/1. N2 - Objective: Unbalanced chromosomal aberrations are common in myelodysplastic syndromes and have prognostic implications. An increased frequency of cytogenetic changes may reflect an inherent chromosomal instability due to failure of DNA repair. Therefore, it is likely that chromosomal defects in myelodysplastic syndromes may be more frequent than predicted by metaphase cytogenetics and new cryptic lesions may be revealed by precise analysis methods. Methods: We used a novel high-resolution karyotyping technique, array-based comparative genomic hybridization, to investigate the frequency of cryptic chromosomal lesions in a ...

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.

To detect novel genetic alterations, many astrocytomas have been investigated by comparative genomic hybridization (CGH). To identify aberration profiles characteristic of World Health Organization (WHO) grade I, II, III, and IV astrocytoma, we performed a meta-analysis of detailed genome wide CGH data of all 467 cases published so far. After expansion of all given aberrations to the maximum of 850 GTG-band resolution, the frequencies of genetic imbalances were calculated for each chromosomal band, separately for all four WHO grades. Low-grade astrocytoma has already demonstrated one characteristic of glioblastoma multiforme, gain of chromosome 7 with a hot spot at 7q32, but without loss of chromosome 10. In anaplastic astrocytoma, a more complex aberration pattern emerges from diffuse genetic imbalances. Gains of 7q32-q36 and 7p12 become the most frequent aberrations at chromosome 7. In glioblastoma multiforme, coarse aberrations like +7, -9p, -10, and -13 represent the most frequent ...

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic techniques, Spectral karyotyping (SKY), and FISH failed to detect abnormalities. We performed a high resolution genome-wide screening for submicroscopic chromosomal rearrangements using array-CGH on 41 children with idiopathic mental retardation (MR) and dysmorphic features. The commercially available microarray from Spectral Genomics contained 2600 BAC clones spaced at approximately 1 Mb intervals across the genome. Standard chromosome analysis (|450 bands per haploid genome) revealed no chromosomal rearrangements. In addition, multi-subtelomeric FISH screening in 30 cases and SKY in 11 patients did not

Detection of numerical chromosomal aberrations in paraffin-embedded malignant mesothelioma by non-isotopic **in situ** hybridization ...

Clonal chromosomal changes were detected in three of five sporadic angiomyolipomas of the kidney irrespective of a solitary or multifocal appearance of this benign tumor type. No specific chromosomal changes have been identified. Including the cytogenetic data of the four renal angiomyolipomas repor …

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 ...

Pretreatment cytogenetics is a known predictor of outcome in hematologic malignancies. However, its usefulness in adult acute lymphoblastic leukemia (ALL) is generally limited to the presence of the Philadelphia (Ph) chromosome because of the low incidence of other recurrent abnormalities. We present centrally reviewed cytogenetic data from 1522 adult patients enrolled on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. The incidence and clinical associations for more than 20 specific chromosomal abnormalities are presented. Patients with a Ph chromosome, t(4;11)(q21;q23), t(8;14)(q24.1;q32), complex karyotype (5 or more chromosomal abnormalities), or low hypodiploidy/near triploidy (Ho-Tr) all had inferior rates of event-free and overall survival when compared with other patients. In contrast, patients with high hyperdiploidy or a del(9p) had a significantly improved outcome. Multivariate analysis demonstrated that the prognostic relevance of t(8;14),

Leukaemia is often associated with genetic alterations such as translocations, amplifications and deletions, and recurrent chromosome abnormalities are used as markers of diagnostic and prognostic relevance. However, a proportion of acute myeloid leukaemia (AML) cases have an apparently normal karyotype despite comprehensive cytogenetic analysis. 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. Imbalances involving large chromosomal regions or entire chromosomes were detected by aCGH in seven of the patients studied. Results were validated by fluorescence in situ hybridization (FISH) to both interphase nuclei and metaphase chromosomes using appropriate bacterial artificial chromosome (BAC) probes. The majority of these copy number alterations (CNAs) were confirmed by FISH and found ...

We report the results of a pilot microsatellite marker screen for duplications and deletions in 27 children with developmental delay and multiple congenital anomalies. Among these 27 patients, two children were diagnosed with newly characterised chromosome aberrations to account for their mental retardation and dysmorphic features. The identification of two deletions in 27 cases gave a detection rate of 7.5% without adjustment for marker informativeness (95% confidence interval 1-24%) and an aberration frequency of 18% if marker informativeness for monosomy was taken into account. The figure of 18% is higher than previous estimates of the frequency of subtelomeric chromosome abnormalities (5-10%) in children with idiopathic mental retardation17 19 although the confidence interval is overlapping.. In spite of the limited informativeness of the marker panel used in this pilot project, microsatellite markers detected two submicroscopic aberrations.17 20 22 The use of genetic marker analysis allows ...

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 ...

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 ...

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 ...

TY - JOUR. T1 - Association of the NAT1*10 genotype with increased chromosome aberrations and higher lung cancer risk in cigarette smokers. AU - Abdel-Rahman, Sherif Z.. AU - El-Zein, Randa. AU - Zwischenberger, Joseph B.. AU - Au, William W.. PY - 1998/2/28. Y1 - 1998/2/28. N2 - The NAT1 gene exhibits polymorphisms in the non-coding polyadenylation region with a number of alleles. Of these alleles, NAT1*10 is responsible for increased NAT1 enzyme levels and is reported to be associated with increased risk for colorectal and bladder cancers. In view of the possible role of the NAT1 gene product in the metabolism of a number of cigarette smoke carcinogens, we tested the possibility that genetic variation in the NAT1 gene might also be associated with increased risk for lung cancer. Allelic variances of the NAT1 gene were analyzed in 45 lung cancer patients and 47 controls wile were matched with respect to age, race and gender using restriction fragment length polymorphism (RFLP) analysis and ...

The aim of this work was to analyze the relationship between polymorphisms of DNA repair gene XPD Lys751Gln and frequency and spectrum of chromosome aberrations

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) ...

Here we describe a rare case of an apparently balanced karyotype of 46, XY, t(1;22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex chromosomal rearrangement (CCR) referred to ou

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). ...

Read or download book entitled Benign and Pathological Chromosomal Imbalances written by Thomas Liehr which was release on 31 August 2013, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. Book excerpt: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, ...

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

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

Opn5 (CEU) ancestry (Online Methods; Supplementary Numbers 1 and 2). After filtering, 414,804 autosomal SNPs common to both case-control series remained (Supplementary Number 1). To explore the relationship between SNP genotype and translocations involving the hybridization (FISH) and/or karyotype data (Supplementary Number 1). Translocation data were available on 1,655 multiple myeloma individuals, 12% with t(4;14) and 17% with t(11;14) and ploidy status was available for 1,535 individuals, 55% of which had HD (Supplementary Table 1). Prior to starting the meta-analysis of the two GWAS by subtype, we searched for potential errors and biases in the data units. Quantile-quantile plots of before and after Eigenstrat adjustment EGT1442 =1.03, 1.01, and 1.17, 1.03, for UK and German studies respectively; Supplementary Number 3). Using data from UK and German GWASs, we derived the combined OR and confidence interval (CI) for each SNP under a fixed-effects model along with the connected translocations ...

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). ...

The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell li

We have shown that PIK3CA pathway aberrations are common in breast cancer, pointing to a critical role for this signaling pathway in breast carcinogenesis. PIK3CA oncogene mutations are particularly common, whereas AKT and PTEN mutations occur less frequently ( Table 1). The AKT1_E17K mutation was detected in only 6 of 418 breast cancers (1.4%), confirming a role in breast cancer pathophysiology albeit in a limited number of breast cancers. Amplification of PDK1, PIK3CA, PIK3CB, AKT1, AKT2, and p70S6K is also among the extensive list of known aberrations that can activate PI3K pathway signaling in cancer ( 1). The frequency of PI3K pathway mutational aberrations was markedly different among the different breast cancer subtypes, being most common in hormone receptor-positive tumors and least common in basal-like cancers. This breast cancer subtype specificity suggests that PIK3CA mutations and other PI3K pathway aberrations may play a distinct role in the pathogenesis of these different diseases. ...

Comparative genomic hybridization (CGH) was used to screen 83 lung adenocarcinomas of 60 patients for chromosomal imbalances. The most common alteration was DNA overrepresentation on chromosome 1q, with a peak incidence at 1q22-q23 in 73% of the primary tumours, followed by DNA overrepresentation on …

In this study, we compared genetic instability in 70 breast carcinomas analyzed by two different methods, cytogenetics and flow cytometry. This comparison showed that each method has its strengths and weaknesses. Flow cytometry detected aneuploidy in 60% of cases, but missed most of the cytogenetically near-diploid clones and clones with simple chromosomal changes. Cytogenetics revealed chromosomal abnormalities in 50% of the samples. Simple chromosomal changes and multiploidy were readily detected by this method, but some of the clones with a high DNA index by flow cytometry were missed. The two methods gave corresponding results in the majority of cases (54%). In 17 cases, both methods detected matching abnormal clones (r = 0.93) but the DNA index was higher than predicted by the chromosome numbers. Most of the discrepancies might be explained by tumor heterogeneity and insufficient numbers of cells available for cytogenetic analyses. In seven cases, single-cell abnormalities were found that ...

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

A coded analysis of X-ray-induced chromatid aberrations in lymphocyte cultures from 45 control individuals and 19 ataxia-telangiectasia (A-T) heterozygotes was performed. The distribution of chromatid breaks induced in the late G2 portion of the cell cycle by 60 cGy of X-rays appeared bimodal in the study population. In six controls (13 percent) and in 12 of 19 (63 percent) A-T heterozygotes, the

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 ...

Hospital statistics for Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality including various hospitalization stats.

Treatments for Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.

Chromosome abnormalities can be classified as either structural or numerical. Numerical abnormalities include duplications or deletion of a pair of chromosomes, such as Down Syndrome. Structural abnormalities include missing, extra or switched parts of a chromosome. Discover the latest research on chromosomal abnormalities here. ...