Inversions frequency of chromosome aberrations chromosome aberrations. Medical search. Frequent questions

For example - how do genome structural aberrations and changes in copy number, a result of increased genome instability in cancer, affect the expression of genes and other functional elements such as miRNA, and how do the latter changes affect the function of related proteins. (biomedcentral.com)

Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. (nih.gov)
The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 (ETV6) and RUNX1 genes results in ETV6-RUNX1 gene fusion and is the most common genetic aberration in childhood acute lymphoblastic leukemia (ALL). (wikipedia.org)
The chromosome translocation t(8;21)(q22;q22) creates the RUNX1-ETO fusion gene, which is expressed in FAB subtype M2 AML samples. (wikipedia.org)
Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22 called the Philadelphia (Ph) chromosome. (lu.se)
Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
After mFISH analyses of the same cell samples studied previously, it was confirmed that spleen cells of 20-week-old mice irradiated either as 15.5-day fetuses or as 3- to 4-day-old neonates showed translocation frequencies close to zero. (bioone.org)
Therefore, it was surprising to find that fetuses exposed to atomic-bomb radiation did not show a dose-related increase of translocation frequencies in blood lymphocytes when they were examined at around 40 years of age ( 6 ). (bioone.org)

examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. (lidsen.com)

In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)
How this extremely rare chromosomal aberration contributes to the pathogenesis of myelodysplastic syndrome should be clarified by accumulating clinical data of such cases. (biomedcentral.com)
To the best of our knowledge, inv(7)(q22q36) as a sole chromosomal aberration in a clinical sample of de novo malignancies has never been documented. (biomedcentral.com)
A type of chromosomal aberration involving DNA BREAKS. (lookformedical.com)

A questionnaire sent to major cytogenetics laboratories in the United States and Canada over a 10-year period collected data on the frequency and outcome of cases with either apparently balanced de novo rearrangements or de novo supernumerary marker chromosomes detected at amniocentesis. (nih.gov)
In non-Robertsonian rearrangements, distribution of breakpoints among chromosomes was not as would be expected strictly on the basis of length. (nih.gov)
The RUNX1 and CBFB genes are targets of chromosome rearrangements that create oncogenic fusion genes in leukemia. (wikipedia.org)
The "core binding factor AML" (CBF AML) [WHO classification] is the most common group of AML, including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). (wikipedia.org)
These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)
Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)
Despite their genetically complex nature, available data indicate that variant rearrangements do not confer any specific phenotypic or prognostic impact as compared to CML with a standard Ph chromosome. (lu.se)
Rearrangements, such as inversions and translocations, give rise to tumor-driving fusion products as in the case of BCR-Abl and the Philadelphia Chromosome as well as in more recent findings implicating fusion structures in solid tumors. (biomedcentral.com)
We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)

In a series of papers, Serebrovsky (1930), Dubinin (1929), Agol (1930) and their colleagues have described an extremely interesting group of bristle-reducing mutant genes lying at the scute locus of the X-chromosome of Drosophila melanogaster. (caltech.edu)
A recent paper in this journal by Detlefsen(1) is introduced as follows: "There is a well intrenched concept of recent genetics that hereditary factors or genes may be given fairly definite loci on chromosome maps and that these maps correspond to or represent, roughly perhaps, the actual conditions in the chromosome. (caltech.edu)
Morgan considered these two genes as lying in a "second chromosome," the first chromosome being the sex chromosome. (caltech.edu)
Others, for example the famous 3RP inversion of Drosophila melanogaster, are several megabases in size, include several percent of the entire genome and span hundreds or thousands of genes. (schleiden-eifel.de)
A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)

This suggests that one of the inversion breakpoints occurred between. (schleiden-eifel.de)
Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)
Subsequently, the introduction and relevance of new methods for high-resolution dissection of breakpoints of chromosomal aberrations is discussed. (biomedcentral.com)

Our most compelling result discovered CNV at 16p11.2 (p = 0.002) (with characteristics of a genomic disorder) at approximately 1% frequency. (nih.gov)
Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)

It seems probable that the scheme outlined in this paper will apply for the case of inversions that do not include the locus of the spindle attachment and for other chromosome aberrations in which crossing-over gives rise to chromatids with two spindle attachments, and where the conditions of meiosis are such that (a) the meiotic spindles are oriented so that the reduced nuclei lie approximately on a single straight line, and (b) only one of the terminal nuclei functions in further development. (caltech.edu)
The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
The two homologous chromosomes contain identical alleles at a given locus . (amboss.com)
The two homologous chromosomes contain different alleles at a given locus . (amboss.com)

Belgovsky (1937) reported an increased frequency of somatic mutations in the hybrids between D. melanogaster and D. simulans, in x-ray experiments. (caltech.edu)
Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy ( Zagozdzon and Golab, 2015 ZAGOZDZON, R. and GOLAB, J., 2015. (scielo.br)
The first tumours they sequenced had mutational phenotypes that went against a gradual model of tumour evolution, no mutations on some chromosomes but massively instable (chromothriptic) chromosome 15. (blogspot.com)
It is a highly heterogeneous group of hematological disorders that results from the acquisition of chromosomal aberrations and somatic mutations. (waocp.com)

Five of these lie in the X-chromosome, and a study of their linkage relations was shown to indicate that the sequence of the five loci concerned is the same in both species, and that the percentages of crossing over in comparable regions, while not indentical, is still not very different. (caltech.edu)

Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup. (nih.gov)
CONCLUSION: This this study revealed a high frequency of chromosomal abnormalities, with a predominance of structural abnormalities, among patients suspected of genetic disorders in Ouagadougou. (bvsalud.org)
Some structural variants are difficult to analyse, e.g. balanced polymorphic inversions with no copy number change. (blogspot.com)
Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)

Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
The prognostic significance of the secondary genetic changes is not uniform, although abnormalities involving chromosome 17, e.g., i(17q), have repeatedly been shown to be ominous. (lu.se)
Objective: To determine the frequency of cytogenetic abnormalities in patients diagnosed as primary myelodysplastic syndrome (MDS) using conventional karyotyping. (aku.edu)
The common abnormalities found were: trisomy 8 in 7 cases (9.9%), -7/del (7q) in 3 cases (4.2%), -Y and complex 5q in 2 cases (2.8%) each, complex trisomy 8, del 11q , inversion 9, trisomy 19 and del 20q were found in 1 case (1.4%) each. (aku.edu)

We found significant increases in the MN frequency and induced chromosomal aberrations in the lymphocytes of only one donor after ethyl-paraben exposure in the presence of S9 after a short exposure. (metasystems-probes.com)
In a control cohort of 68 human lymphocytes, telomere length and telomere aberrations were age-dependent and showed high inter-individual variation. (metasystems-probes.com)
To determine the prevalence of chromosomal aberrations in infertile couples undergoingin vitro fertilization (IVF).Design: Cytogenetic analysis of peripheral blood lymphocytes in the group of patients undergoingIVF. (cs-gynekologie.cz)
Detection of chromosomal aberrations in the fetuses after IVF.Setting: Department of Medical Genetics and Fetal Medicine, Medical Faculty, Palacký Universityand the University Hospital, Olomouc.Methods: Cultivation of peripheral blood lymphocytes or 﫿 broblasts of amniotic 﫿 uid. (cs-gynekologie.cz)
We previously reported that mouse fetuses or neonates exposed to 2 Gy of X rays showed an unexpectedly low incidence of chromosome damage in lymphocytes, bone marrow, and spleen cells when the mice were subsequently examined at 20 weeks of age. (bioone.org)

In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)

The risk of abnormality for extra nonsatellited marker chromosomes was 14.7% (n = 68), and that for satellited marker chromosomes was 10.9% (n = 55). (nih.gov)
We report a patient with myelodysplastic syndrome whose marrow cells carried an inversion of 7q22 and q36 as a sole karyotypic abnormality. (biomedcentral.com)

The pericentric chromosome inversion inv(16)(p13q22) creates the CBFB-MYH11 fusion gene, which encodes the CBFβ-SMMHC fusion protein. (wikipedia.org)

Derivative chromosomes are indicated with arrows. (schleiden-eifel.de)

Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)

We wish to call attention to the fact that in his last paper Castle ignores our proof of the linear order that is furnished by building up the whole chromosome (or even large sections of it) by "distances" so short that no double cross-over classes appear. (caltech.edu)
However, cells bearing translocations were occasionally observed that, on the basis of 2-color whole chromosome painting appeared to be clonal descendants. (bioone.org)

Abnormal number or structure of chromosomes. (lookformedical.com)

However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)
Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
However, the clinical impact of additional cytogenetic and molecular genetic aberrations is most likely modified by the treatment modalities used. (lu.se)
In an era of personalized medicine, there is an urgent need for better knowledge of the biology leading to the disease, which can lead to the design of increasingly accurate drugs against patients' specific molecular aberrations. (123dok.org)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)

Mediates attachment of the chromosome to the meiotic or mitotic spindle . (amboss.com)

No clear-cut differences as regards type and prevalence of additional aberrations seem to exist between CML with standard t(9;22) and CML with variants, except for slightly lower frequencies of the most common changes in the latter group. (lu.se)

Deletions of chromosome 7 are often detected in myelodysplastic syndrome. (biomedcentral.com)

The frequency of ICF cells with chromosomal aberrations seems to increase with passage number, 3,4,40 although this is not a consistent finding. (schleiden-eifel.de)
A high frequency of MN was observed in the TK6 cells after a short exposure (3 h) in the presence of S9 and a long exposure (26 h) without S9. (metasystems-probes.com)
This indicated that inv(7)(q22q36) seen in his bone marrow cells was not a constitutional aberration. (biomedcentral.com)
They described two patients with PNH with an acquired rearrangement of chromosome 12 affecting the HMGA2 gene, which encodes a chromatin remodeling protein, in the PIGA mutant cells [ 12 ]. (annexpublishers.co)
The test item did not induce a significant level of chromosome aberrations in Chinese hamster V79 cells in the performed experiments with and without metabolic activation. (europa.eu)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)
Since no evidence of clonality was observed in the irradiated mother, we concluded that in both fetuses and neonates, there exists a small fraction of stem cells that are distinct from the bulk of the stem cell compartment in terms of their ability to acquire and transmit radiation-induced chromosome damage through clonal expansion. (bioone.org)
Germ cells only carry one-half of a somatic cell's chromosomes . (amboss.com)
Chromosomes got their name by early cell biologists when they observed certain dark-staining objects in dividing cells. (carnivorousplants.org)
In human dividing cells 46 chromosomes can be observed. (carnivorousplants.org)

It has been shown above that crossovers between X chromosome segments inverted with respect to one another influence the orientation of the meiotic tetrads in such a way as to eliminate the single crossover chromatids, leaving a normal non-crossover one in the reduced egg nucleus. (caltech.edu)

Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. (scielo.br)
Chromosome identification and karyotype description was done according to the International System for Chromosome Nomenclature (ISCN, 1995) and described as frequency percentage. (aku.edu)

Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this patient. (biomedcentral.com)

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)
Here, we present a comprehensive cytogenomic approach to breakpoint mapping in a rare paracentric inversion on 10q (in a patient with oligoasthenoteratozoospermia and necrozoospermia) that does not affect other phenotype traits. (metasystems-probes.com)

The cytogenetic analysis of GTG-banded chromosomes was performed in six male patients with infiltrating ductal carcinoma and six healthy male controls matched for age. (bvsalud.org)
Cytogenetic analysis found aberrations previously implicated in cancer. (bvsalud.org)

All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)
The human genome consists of 23 pairs of chromosomes ( 22 pairs of homologous chromosomes and one pair of sex chromosomes ). (amboss.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
Each human cell contains 23 pairs of homologous chromosomes (corresponding in structure and genetic information, i.e., 23 chromosomes are inherited from each parent). (amboss.com)
Each component in the Gaussian mixture distribution captures a different type of aberration that is observed in the mate pairs, after being mapped to the reference genome. (biomedcentral.com)
These aberrations may include any increase (decrease) in the insertion size or change in the direction of mate pairs that are mapped to the reference genome. (biomedcentral.com)

The non-random nature of these events, as documented by their high frequencies of incidence, is suggesting for dynamic selection of these changes during experimental EC tumorigenesis and therefore for their potential contribution into development of this malignancy. (biomedcentral.com)

a complete haploid set of chromosomes is present. (schleiden-eifel.de)

Belling(1) suggested that the chromosome rings found in Oenothera by Cleland(2) and others are to be explained as resulting from exchanges of ends between non-homologous chromosomes, so that one chromosome of a given complex is homologous at one end to one chromosome of a second complex, and at the other end to a different chromosome of the second complex. (caltech.edu)

Under ordinary conditions there is so little crossing over in the fourth chromosome of Drosophila melanogaster that the usual method of constructing a map is not practicable. (caltech.edu)
Genetic studies showed several years ago that the third chromosomes of wild strains of Drosophila pseudoobscura often carry suppressors of crossing-over. (caltech.edu)
In September, 1913, a wild female Drosophila of a stock from Liverpool, Nova Scotia, was crossed to a male bearing the second chromosome mutant characters vestigial and speck. (caltech.edu)
Inversion was first discovered by Sturtevant in 1921 in Drosophila. (schleiden-eifel.de)

When they looked at the levels of copy number aberration in [patient sot call chromothripsis they found 5/6 cases which were undiagnosed Li-Fraumein syndrome. (blogspot.com)

In the following sections we first provide an overview of current methods for diagnostic detection and interpretation of chromosomal aberrations in MCA/MR patients. (biomedcentral.com)

The NF2 gene is a tumour suppressor on chromosome 22. (bmj.com)

To overcome this problem, multi-color FISH (mFISH) was employed, which assigns all 21 individual chromosome types of the mouse a unique color. (bioone.org)

Chromosomes and hybrids. (carnivorousplants.org)
The fate of plant hybrids in nature depends very much on the compatibility of the chromosomes of the parents, which parent is the seed parent, and the exact circumstances of the event. (carnivorousplants.org)
The more similar the chromosomes (the genome and epigenome as well as chromosome number) the more likely hybrids will form and reproduce but also the more likely the net result will only be the introgression of genetic material from one species to the other. (carnivorousplants.org)
The more different the chromosomes of the hybrids are the more likely hybridization will result in a speciation event. (carnivorousplants.org)

In spite of our lack of attention to chromosomes and chromosome numbers in formally defining species, it is the chromosomes and the genetic material they contain that define true species and control the evolution of new species. (carnivorousplants.org)

In this study, we develop a workflow called Hema-seq to delineate clonal changes across various hematopoietic lineages through the integration of whole-genome sequencing, copy-number variations, cell morphology, and cytogenetic aberrations. (bvsalud.org)

The risk of a serious congenital anomaly was estimated to be 6.1% (n = 163) for de novo reciprocal translocations, 3.7% (n = 51) for Robertsonian translocations, and 9.4% (n = 32) for inversions. (nih.gov)

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)

The most recurrent numerical alterations were gains in rat chromosome 4 (RNO4) and losses in RNO15. (biomedcentral.com)

in simulans they lie in the same chromosome (which is thus identified as the third one), but they were found to be at least 45 units apart. (caltech.edu)
These frequencies have been found in developing countries such as North America and Western Europe [25-27]. (waocp.com)

This includes both karyotyping of banded chromosomes and, since the nineties of the last century, also fluorescence in situ hybridization (FISH). (biomedcentral.com)
In the present work we used spectral karyotyping (SKY) to identify cancer-related aberrations in a well-characterized experimental model for spontaneous endometrial carcinoma in the BDII rat tumor model. (biomedcentral.com)

This whole package of DNA (genome) and protein (epigenome) in a chromosome is what controls the development and maintenance of eukaryotic organisms (protists, fungi, animals, and plants). (carnivorousplants.org)

A comparison was made of the frequency of chromosome aberrations in larvae from the irradiated White Oak Lake population with the frequency of aberrations from two control populations. (mebleogrodowe.pl)
The salivary gland chromosome technique has made it possible to demonstrate not only that these are inverted sections, but also that there are many different inversions present in wild populations inhabiting different geographical regions. (caltech.edu)

Each of the two NF2 patients who had received stereotactic radiotherapy had non-chromosome 22 changes, whereas only one of eight non-irradiated NF2 patients had any chromosome changes. (bmj.com)

In 1986, the NF2 gene was mapped to chromosome 22, and in 1993, two groups independently isolated the gene and named its encoding protein merlin or schwannomin. (bmj.com)

what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)

Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)

Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. (lookformedical.com)

The differences reported were not very striking, and in any case have little bearing on questions concerning spontaneous frequencies. (caltech.edu)

Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
Copy Number Variation (CNV) is a major source of the genetic variations and aberrations in the human genome. (biomedcentral.com)

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