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Chromosome Aberrations (Chromosome Abnormalities)

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Abnormal number or structure of chromosomes. Many chromosome aberrations, but not all, are the cause of CHROMOSOME DISORDERS.

Also Known As:

Chromosome Abnormalities; Chromosomal Abnormalities; Abnormalities, Chromosome; Chromosomal Aberrations; Chromosomal Abnormality; Chromosome Aberration; Abnormalities, Autosome; Abnormalities, Chromosomal; Cytogenetic Abnormalities; Aberration, Chromosomal; Aberration, Chromosome; Aberration, Cytogenetic; Aberrations, Chromosomal; Aberrations, Chromosome; Aberrations, Cytogenetic; Abnormal Karyotypes; Abnormalities, Cytogenetic; Abnormality, Autosome; Abnormality, Chromosomal; Abnormality, Chromosome; Abnormality, Cytogenetic; Autosome Abnormality; Chromosomal Aberration; Chromosome Abnormality; Cytogenetic Aberration; Cytogenetic Abnormality; Karyotypes, Abnormal; Abnormal Karyotype; Autosome Abnormalities; Cytogenetic Aberrations; Karyotype, Abnormal

Networked: 9172 relevant articles (218 outcomes, 923 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Leukemia
2.	Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
3.	Myelodysplastic Syndromes (Myelodysplastic Syndrome)
4.	Neoplasms (Cancer)
5.	Philadelphia Chromosome

Experts

1.	Bolzán, Alejandro D: 19 articles (12/2015 - 06/2002)
2.	Bianchi, Martha S: 16 articles (01/2013 - 06/2002)
3.	Xu, Wei: 16 articles (10/2012 - 10/2006)
4.	Afzal, Mohammad: 16 articles (09/2010 - 07/2002)
5.	Barlogie, Bart: 15 articles (06/2013 - 10/2002)
6.	Li, Jian-Yong: 15 articles (06/2012 - 10/2006)
7.	Kaina, Bernd: 14 articles (07/2015 - 01/2002)
8.	Natarajan, A T: 14 articles (08/2013 - 06/2000)
9.	Durante, M: 14 articles (08/2013 - 06/2000)
10.	Nicolaides, K H: 14 articles (06/2011 - 05/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome Aberrations:

1.	DNA (Deoxyribonucleic Acid)IBA 09/01/2012 - "Exact breakpoint determination by DNA-array has dramatically improved the analysis of genotype-phenotype correlations in chromosome aberrations. " 05/15/2006 - "The treatment with LA showed significant reduction in the frequency of chromosomal aberrations, DNA strand breaks and apoptosis in bone marrow cells as well as decreased the micronuclei formation in bone marrow and peripheral blood of rats treated with ADR. " 12/01/2009 - "We have witnessed great improvement in the resolution of the assays allowing for more detailed characterization of cytogenetic abnormalities, including the efficient and accurate identification of DNA copy number alterations of specific chromosomal regions. " 03/01/2007 - "The temperate doses of (1-6 Gy) gamma-rays 137Cs were less effective in the induction of the G2-block estimated by flow cytometry analysis of DNA content and in the induction of the chromosome aberrations (bridges and fragments in anaphase). " 05/25/1998 - "Positive results in the in vitro assay for chromosome aberrations sometimes occur with test chemicals that apparently do not react with DNA, being negative in tests for mutation in bacteria, for DNA strand breaks, and for covalent binding to DNA. "
2.	lenalidomide (CC 5013)FDA Link 05/01/2008 - "The recommendations presented in this review will aid the safe administration of lenalidomide for the treatment of patients with low-risk or intermediate-1-risk MDS and a del(5q) cytogenetic abnormality, and they will help physicians avoid unnecessary dose reduction or interruption, thus assuring the best efficacy for patients." 12/20/2008 - "One non-GF drug, lenalidomide, is particularly effective at achieving transfusion independence (TI) in patients with lower-risk MDS with the del(5q) cytogenetic abnormality. " 12/01/2006 - "Results suggest that oral lenalidomide is cost effective in the United States in the treatment of transfusion-dependent, low- or intermediate-1-risk MDS associated with a deletion 5q cytogenetic abnormality. " 04/01/2010 - "In this study, we have investigated the in vitro effects of lenalidomide on an MDS-derived cell line, MDS-L, which carries del(5q) and complex chromosome abnormalities. " 07/01/2015 - "Lenalidomide is an immunomodulatory drug which is used to treat patients with MDS with deletion 5q chromosomal abnormality. "
3.	Cyclophosphamide (Cytoxan)FDA LinkGeneric 09/26/2002 - "Chromosome aberration assays for the study of cyclophosphamide and Bacillus thuringiensis in Oxya chinensis (Orthoptera: Acrididae)." 09/01/1994 - "In this study we have compared the results of a method for the detection of cyclophosphamide in urine and the results of analysis of chromosomal aberrations in peripheral blood lymphocytes of four groups of subjects with various exposure statuses. " 01/01/1987 - "In the present study, which uses a mouse model, the in vivo/in vitro cytogenetic assays (SCEs and chromosomal aberrations) have been compared with similar in vivo systems in bone marrow and spleen cells treated with various doses of cyclophosphamide (CPA). " 07/01/1986 - "The comparative in vivo and in vitro study of chromosomal aberrations and SCE induced by cyclophosphamide (CP) in macaca rhesus lymphocytes was performed. " 07/01/1983 - "A study was made of the frequency of chromosome aberrations induced by cyclophosphamide (CP) in the bone marrow of preirradiated rats (exposure of crus with the body shielded, and vice versa). "
4.	Cytarabine (Cytosar-U)FDA LinkGeneric 05/01/1988 - "It was found that treatment of cells irradiated early in cell cycle, that is, in G1 and early S, with APC or ara-C in G2, (1) reduced the frequency of chromatid and chromosome exchanges below that of cells treated with X-rays alone, (2) produced no more chromatid breaks and gaps than were seen in unirradiated cells, (3) increased the number of chromosome fragments and gaps in a more than additive fashion, and (4) produced only an additive effect, by comparison with the effect of X-rays and drug given separately, on the total number of chromosomal aberrations." 06/01/2008 - "Prognostic factors for complications of ATRA (Fisher exact test) were: BMI >35 (p=0.055), induction treatment without cytarabine (LPA99 trial) (p=0.047), whereas age (p=0.74), gender (p=0.51), initial WBC (p=0.47), and additional cytogenetic abnormalities (p=0.83) were not predictive. " 03/01/1998 - "In this study we aimed at testing whether leukemic cells from patients showing the inv(16) were more sensitive to Ara-C in vitro, compared to AML blasts from patients with normal karyotype or chromosomal abnormalities other than t(15;17) or t(8;21). " 05/01/1967 - "Studies on the induction of chromosomal aberrations in human leukocytes by cytosine arabinoside." 01/20/2014 - "Patients of all ages with very-bad-risk cytogenetic abnormalities and/or FLT3-ITD (internal tandem duplication) mutation, or with secondary AML benefitted from HD cytarabine. "
5.	Ascorbic Acid (Vitamin C)FDA LinkGeneric 04/18/2001 - "Similarly, there is no conclusive evidence from studies of strand breaks, micronuclei, or chromosomal aberrations for a protective effect of Vitamin C. " 12/01/2014 - "It has been established that post-irradiation effect of ascorbic acid upon the PBL culture in concentrations of 40.0 and 80.0 μg/ml, which exceeding therapeutic concentration value 2 and 4 times correspondingly, increased overall chromosome aberrations frequency 1.4 times compared with irradiation effect in a low dose (0.3 Gy). " 12/01/2014 - "Cell culture irradiation in low dose (0.3 Gy) and treatment with ascorbic acid in therapeutic concentration (20.0 μg/ml of blood) resulted in radioprotective effect, decreasing overall chromosome aberrations frequency as opposed to radiation effects. " 05/01/2008 - "The genotoxic effects of Vitamin C (ascorbic acid) on human lymphocytes in vitro were estimated by analyzing and identifying various chromosome abnormalities, in relation to the concentration of Vitamin C. " 11/01/2007 - "The objective of this investigation was to evaluate the frequency of chromosomal aberrations expressed as micronuclei (MN) in 4-8 cell embryos generated by gamma-irradiation of female mice in the absence and in the presence of vitamin C. "
6.	imatinib (Gleevec)FDA Link 02/01/2014 - "A retrospective analysis of 72 patients with Ph⁺ ALL to probe prognostic factors including sex, age, high white cell counts at diagnosis, additional chromosome abnormality, BCR-ABL transcripts type, imatinib based therapy, allo-HSCT and complete remission (CR) after one-course induction on the outcomes of Ph⁺ALL patients. " 04/02/2015 - "Thus, morgana acts as an oncosuppressor with different modalities: (1) Morgana underexpression induces centrosome amplification and cytogenetic abnormalities, and (2) in Ph(+) CML, it synergizes with BCR-ABL signaling, reducing the efficacy of imatinib treatment. " 03/01/2003 - "Emergence of clonal cytogenetic abnormalities in Ph- cells in some CML patients in cytogenetic remission to imatinib but restoration of polyclonal hematopoiesis in the majority." 01/01/2015 - "Here, we intended to study the role played by TKI, imatinib, in selection of gene mutations and development of chromosomal abnormalities in Indian CML patients. " 06/15/2007 - "The study involved 13 cases of patients diagnosed with CML carrying cytogenetic abnormalities in their Ph-negative cell population after imatinib treatment. "
7.	9,10-Dimethyl-1,2-benzanthracene (DMBA)IBA 07/01/2008 - "The frequency of MnPCEs and chromosomal aberrations in bone marrow were higher in DMBA treated animals as compared to control animals. " 09/01/2002 - "These results suggest that, besides the specific chromosomal aberrations and gene mutations, elevated ras gene expression could also be the marker of DMBA exposure." 01/01/1988 - "Stage-related induction of chromosomal aberrations and SCE in mouse embryos treated transplacentally during organogenesis with MMC and DMBA." 12/01/1980 - "In microsome-mediated assay, BP, MC and DMBA at 20 micrograms/ml also induced chromosome aberrations when combined with microsomes. " 12/01/1980 - "In cell-mediated assay, BP, MC and DMBA induced concentration-dependent chromosome aberrations in V79 cells, at concentrations of 0.5--1.0 to 10.0 micrograms/ml in the presence of lethally irradiated Syrian hamster embryonal feeder cells at 2.0 X 10(6) cells/60-mm dish. "
8.	Biological Markers (Surrogate Marker)IBA 09/01/2012 - "For the evaluation of radiation exposure, chromosomal aberration is considered to be the gold standard, yet our results suggest that Krt5 may be a novel biological marker for acute radiation symptoms." 01/01/2012 - "Chromosomal aberrations have been used as important cytogenetic biomarkers to study the mutagenic effects of different chemicals in vivo and in vitro. " 03/01/2010 - "We report the main findings of biomonitoring studies that were conducted in exposed healthcare workers all over the world between 1980 and 2009 using four biomarkers: sister chromatid exchanges, chromosome aberrations, micronuclei. " 08/01/2008 - "Recent studies revealed that increased proliferation of the tumour cells and certain chromosomal aberrations, such as deletions of 17p13 and 9p21 represent major adverse biological markers in this disease, although the molecular targets of chromosomal imbalances in MCL have not been identified for the large majority of loci affected. " 05/01/2006 - "The green mussel Perna viridis was sampled from relatively clean and contaminated sites along the Kartanata-Kerala coast (south west coast of India) to study the tissue concentration of trace metals and biological responses to stress (biomarkers) such as sister chromatid exchange (SCE), chromosomal aberration, micronucleus (MN) test, hemic neoplasia (HN), Chromotest (Ames test) and comet assay. "
9.	CatalaseIBA 09/15/1979 - "The induction of chromosome aberrations is stimulated by Cu2+ or Mn2+ and inhibited by Fe2+ or Fe3+. Addition of catalase to the fecal extract or the mixture of fecal extract and Mn2+ reduced the frequency of chromosome aberrations. " 10/01/1985 - "An attempt was made in this study to reduce the incidence of chromosomal aberrations and delay or prevent the onset of spontaneous neoplastic transformation of freshly isolated mouse cells, both fibroblasts and epidermal keratinocytes, by adding catalase to the culture medium, shielding the cultures from wavelengths less than 500 nm and providing a gas phase of 0-1% O2. " 01/01/1982 - "Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity." 10/01/1994 - "Nevertheless, when the cells were irradiated after treatment with catalase following a similar protocol and the yield of chromosomal aberrations analyzed at metaphase, no protective effect was observed as compared with cells treated with X-rays alone. " 01/01/1981 - "We studied the RBC catalase levels in individuals without detectable chromosomal abnormalities but with aniridia, Wilm's tumor, and the combination of aniridia and Wilms' tumor, to determine whether catalase levels might provide evidence for a submicroscopic chromosomal deletion in the 11p13 region. "
10.	Benzene (Benzole)IBA 01/01/2002 - "Previous studies exploring whether benzene exposure induces chromosomal aberrations have yielded mostly positive results. " 01/16/1994 - "Monitoring of benzene-exposed workers for genotoxic effects of benzene: improved-working-condition-related decrease in the frequencies of chromosomal aberrations in peripheral blood lymphocytes." 04/01/2014 - "Thus, the aim of our study was to assess the frequencies of chromosomal abnormalities (CA) and sister chromatid exchanges (SCE) in workers of gas stations, with (cases, n = 19) and without (local controls, n = 6) risk of exposure to benzene and its derivatives, comparing them with the results from the general population (external controls, n = 38). " 05/01/2004 - "Benzene exposure resulted in an increase of chromosome aberrations of the peripheral lymphocytes, which was in a dose-effect relationship manner; whether benzene exposure could induce premature centromere division deserves further studies." 05/01/2004 - "To study the effects of benzene exposure on chromosome aberration of peripheral lymphocytes in workers. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 08/01/2013 - "Diagnostic clonal chromosomal abnormalities provide important prognostic information and are among the most important factors in predicting initial response to chemotherapy, duration of remission and overall survival. This study analyzed chromosomal abnormalities in bone marrow aspirates of 50 children diagnosed with acute myeloid leuckemia (AML). The culture success rate was 94%, clonal chromosomal abnormalities constituted 62% and recurrent chromosomal abnormalities were 56%. " 01/01/2005 - "The chemotherapy complete remission rate was 68.8% in patients with only Ph+ versus 28.6% in those with additional chromosome abnormalities. " 12/01/1998 - "Cytogenetic analysis revealed a single abnormal karyotype of 47,XY,+6,add(15)(q22) which was successfully detected by fluorescence in situ hybridization (FISH) with the probe mapping at the alpha-satellite region of chromosome 6. Although the patient was treated with several chemotherapy regimens, he could not achieve complete remission and he died of progressive disease 11 months after admission. " 05/01/1997 - "Among 80 patients treated with chemotherapy, the presence of a secondary chromosome abnormality was associated with longer complete remission (CR) duration (median, 29.9 v 15.7 months; P = .03) and longer event-free survival (EFS) duration (median, 17.0 v 12.2 months; P = .03). " 11/01/2015 - "We report on an APL patient with iso(17q) as the sole cytogenetic aberration and a cryptic PML-RARA transcript, who was treated with ATRA and ATO after failure of chemotherapy and achieved complete remission. "
2.	Transplants (Transplant) 05/01/2008 - "TT2's major advance vis-à-vis TT1 pertained to the subgroup without cytogenetic abnormalities (CA), supporting the role of post-transplant consolidation therapy, whereas the improved survival of the CA subgroup on the experimental versus control arm of TT2 attests to the role of THAL in this setting. " 02/01/2008 - "It is concluded that 3q21q26 aberration commonly combined with chromosome aberration 7/7q-, for these patients the efficacy of chemical therapy is poor, the efficacy of bone marrow transplant is too poor, these patients with inv(3q) and t(3; 3) aberrations have poor prognosis and short overall survival." 06/01/2007 - "In the context of Total Therapy 2, a tandem transplant trial for newly diagnosed myeloma, comprehensive information was available in 220 patients on standard prognostic factors (SPF), magnetic resonance imaging (MRI)-defined focal lesions, cytogenetic abnormalities (CA), fluorescence-in-situ-hybridisation (FISH)-derived amplification of chromosome 1q21 (amp1q21) and deletion of 13q14, as well as gene expression profiling (GEP). " 06/01/2000 - "Retrospective cytogenetic and FISH studies of samples obtained after six cycles of FAC/FEC and before transplant demonstrated no chromosomal abnormalities in any of the five patients with post-ASCT karyotypic changes. " 10/15/1998 - "At this time, eight months after transplant, repeat study of his bone marrow revealed the majority of metaphases had structural and numerical chromosome abnormalities similar to the small clone in the earlier study, including der(5)t(5;9)ins(5;7), but with two normal 7s. "
3.	Transplantation (Transplant Recipients) 01/01/2014 - "Interestingly, subgroup analysis showed that serum PTH level at diagnosis was associated with risk factors and clinical outcome in MM patients, especially in complete remission group, transplantation cases, ISS stage II cases, and cases without chromosome abnormality. " 02/01/1993 - "The optimal timing for BMT will continue to evolve, but based upon the currently available information, patients age 55 or less with AML with a high probability of relapse based upon cytogenetic abnormalities should be considered for transplantation in first remission if a related or unrelated donor can be identified. " 06/01/1996 - "Four years post-transplantation he remains in haematological and morphological remission though the cytogenetic abnormality is still present in all metaphases examined." 09/01/2012 - "This review attempts to summarize the findings reported so far for the studies on chromosomal aberrations in adult stem cells and warrant to perform certain basic tests before transplantation to avoid any adverse reactions, which will thus aid in better therapeutic output after cellular transplantation in the treatment of various diseases." 08/01/2006 - "Postcord blood transplantation cytogenetic studies revealed engraftment failure evidenced by switching into the recipient type (XY), and, notably, various complex chromosomal aberrations in the recipient cells. "
4.	Aftercare (After-Treatment) 01/01/1989 - "Embryos exposed to MNU for 24 h after treatment on day 2 showed a significant reduction of cell number and induction of sister chromatid exchange (SCE) frequency, but no structural chromosomal aberrations or inhibition of development during culture. " 04/30/2013 - "Different types of chromosome aberration were observed in mouse bone-marrow cells after treatment with 4-bromo-N,N-diethyl-5,5-dimethyl-2,5-dihydro-1,2-oxaphosphol-2-amine 2-oxide (Br-oxaphosphole, Br-oxph) in a previous study. " 07/01/1984 - "The time-response patterns in the incidence of chromosomal aberrations and micronuclei after treatment with each chemical were compared and subjected to the simulation study with 3 parameters. " 12/01/2015 - "Chromosomal aberrations were analyzed 18h, 10 days, and 15 days after treatment, using PNA-FISH with a pan-telomeric probe [Cy3-(CCCTAA)3] to detect (TTAGGG)n repeats. " 02/01/2014 - "To this end, rat cells (ADIPO-P2 cell line, derived from adipose cells from Sprague-Dawley rat) were treated with a single concentration of SN (100ng/ml), and chromosomal aberrations were analyzed 18h and 10 and 15 days after treatment by using PNA-FISH with a pan-telomeric probe [Cy3-(CCCTAA)3] to detect (TTAGGG)n repeats. "
5.	Radiotherapy 08/01/2005 - "These results may have relevance for biodosimetry studies or for evaluations of the efficacy of radiotherapy which are based on the frequencies of chromosomal aberrations." 02/01/2008 - "These results may have relevance in evaluations of the efficacy of radiotherapy based on the frequencies of chromosomal aberrations." 01/01/2014 - "Our study shows increased incidence of numerical sex chromosomal abnormalities and high risk for reproductive and genetic diseases in patients treated with radiotherapy. " 09/01/2010 - "The purpose of this study was to evaluate the in vivo dose-response relation of chromosome aberration formation and distribution in a context of localised and fractionated radiotherapy. " 01/01/2004 - "Data from two studies of chromosomal aberrations in astronauts used blood samples obtained before and after space flight, and a third study used blood samples from patients before and after radiotherapy course. "