Chromosome or chromosomes chromosome breakpoints. Medical search. Frequent questions

The aberrant chromosomes were isolated by flow cytometry and used to map the chromosome 14 deletion or translocation breakpoints. (nih.gov)
In all these three projects, the most important step was to identify the exact translocation breakpoints using paired end and mate pair next generation sequencing. (helsinki.fi)

3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)

Furthermore, a compilation of other human chromosome 14q proximal deletion and translocation cases was obtained from a search on cytogenetic databases. (nih.gov)
However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
Ring chromosome 18 is a genetic condition caused by a deletion of the two ends of chromosome 18 followed by the formation of a ring-shaped chromosome. (wikipedia.org)
The features of distal 18q- and 18p- vary greatly because of the variability of the deletion size and breakpoint locations between people. (wikipedia.org)
This is due to the deletion of the TGIF gene on the short arm of chromosome 18 in some people with ring 18. (wikipedia.org)
Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. (medlineplus.gov)
The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. (medlineplus.gov)
The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. (medlineplus.gov)
The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18. (medlineplus.gov)
The term "proximal" means that in this disorder the deletion occurs near the center of the chromosome, in an area between regions called 18q11.2 and 18q21.2. (medlineplus.gov)
The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders. (atlasgeneticsoncology.org)

With the draft genomic sequence for human chromosome 14 available, gene searches were performed on selected intervals of the 14q11.2-q21 region to identify candidate genes for the observed phenotype in some of those affected. (nih.gov)
Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
Thus far, several genes on chromosome 18 have been linked with a phenotypic effect. (wikipedia.org)
Seven out of 11 genes that mapped to the breakpoint regions have been previously analyzed using oligonucleotide-microarrays. (anthropogeny.org)
Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
The breakpoints on chromosomes 1 and 10 in the t(1;10) cluster in or near the TGFBR3 and OGA genes, respectively. (mendeley.com)
Surprisingly, an identical translocation between chromosomes 1 and 12, located outside any putative genes, was seen in both families. (helsinki.fi)
Our results demonstrate the feasibility of these methods for the identification of candidate genes in patients with potentially disease-associated chromosome rearrangements. (helsinki.fi)
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. (nih.gov)
Chromosomes are the cellular storage units for genes contained within the nucleus (which is the genetic center) of the cell and are analogous to a spool with the DNA or genetic message being the thread on the spool. (sarcomahelp.org)
Humans have a duplicate set of 23 chromosomes (or a total of 46 chromosomes) in any given cell that carries all of the human genes. (sarcomahelp.org)
The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)
Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)
Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)

The breakpoints of deletions and translocations in the proximal chromosome 14q region were defined in nine patients, four of whom have not been reported previously. (nih.gov)
We have used comparative genomic hybridisation to analyse 19 constitutional chromosome abnormalities detected by G band analysis, including seven deletions, five supernumerary marker chromosomes, two interstitial duplications, and five chromosomes presenting with abnormal terminal banding patterns. (bmj.com)
CGH appears to be a useful adjunct tool for either confirming deletions or defining their breakpoints and for determining the origin of extra chromosomal material, even in cases where abnormalities are judged to be subtle. (bmj.com)
Because ring 18 can involve unique deletions of both the p and q arms of the chromosome there is twice as much reason for the variability between individuals. (wikipedia.org)
Hematologic disorders associated with deletions of chromosome 20q: a clinicopathologic study of 107 patients. (atlasgeneticsoncology.org)
The J segments flanking MYC translocated breakpoints typically exhibit deletions and/or additions of base pairs characteristic of normal Ig V(D)J segment rearrangement. (bmj.com)
Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)

As a result, each cell has four copies of the short arm of chromosome 18. (medlineplus.gov)

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 study of breakpoints that occurred during primate evolution promises to yield valuable insights into the mechanisms underlying chromosome rearrangements in both evolution and pathology. (anthropogeny.org)
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)
Importantly, we found that centromeric regions of some non-rearranged chromosomes also showed genetic differentiation between the hybridising groups, indicating a complex interplay between chromosomal rearrangements and other parts of the genome in maintaining or promoting differentiation and potentially driving speciation between chromosomal races. (conicet.gov.ar)
26 27 In contrast, the chromosomal breakpoint in sBL and HIV-associated BL occurs most commonly in the class switch region, 28 but since both somatic hypermutation and class switching are events that are normally confined to GC B cells and GC centroblast markers are expressed on BL cells, the BL progenitor cells most likely arise from B cells subjected to chromosomal rearrangements in the GC. (bmj.com)
In PLOS Genetics , researchers from the Karolinska Institute and elsewhere map breakpoints in three individuals with complex chromosomal rearrangements. (genomeweb.com)
Using molecular cytogenetics - along with short-read sequencing, optical mapping, linked-read mapping, and long-read genome sequencing - the team found multiple clinically informative breakpoints in two individuals with de novo , karyotypically balanced, rearrangements involving multiple chromosomes and one individual with " de novo , extremely complex" rearrangements centered on chromosome 1. (genomeweb.com)
The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). (anthropogeny.org)
The breakpoints of the inversion that distinguishes human chromosome 4 (HSA4) from its chimpanzee counterpart were identified by fluorescence in situ hybridization (FISH) and comparative sequence analysis. (anthropogeny.org)

The ring is formed when the caps on both the long arm (q) and the short arm (p) of one copy of chromosome 18 are lost and the new ends re-join to form the ring. (wikipedia.org)
In some cases, the extra copy of chromosome 18 is present in only some of the body's cells. (medlineplus.gov)

Individuals with ring 18 have one of their two copies of chromosome 18 that has formed the shape of a ring. (wikipedia.org)
Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. (medlineplus.gov)
In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. (medlineplus.gov)
Trisomy 18 occurs when each cell in the body has three copies of chromosome 18 instead of the usual two copies, causing severe intellectual disability and multiple birth defects that are usually fatal by early childhood. (medlineplus.gov)
Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. (medlineplus.gov)

A translocation involves the mechanical breakage and reconnection between different chromosomes (Obata 1999). (sarcomahelp.org)

To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
PCR-based markers and cytogenetic analysis with genomic in situ hybridisation were applied to identify alien chromatin in four genetically diverse populations of wheat ( Triticum aestivum ) lines incorporating chromosome segments from Thinopyrum intermedium and Secale cereale (rye). (nature.com)
In the past, cytogenetic techniques such as fluorescent in situ hybridization were used to locate the exact breakpoints while modern sequencing technologies have lately revolutionized this process. (helsinki.fi)

Most alien wheat lines carry whole chromosome arms, and it is notable that these lines showed intra-arm recombination within the 1BS arm. (nature.com)
The composite RI set, termed the BXN set, contains 4790 recombination breakpoints. (nervenet.org)
Reduced fertility or recombination suppression in karyotypic hybrids has the potential to maintain or promote genetic differentiation in genomic regions near rearrangement breakpoints. (conicet.gov.ar)
The internal chromosomes of the chain (8 and 12) show the greatest differentiation, which may reflect pairing and recombination properties of internal and external elements in a meiotic chain. (conicet.gov.ar)
Moreover, the breakpoint in the Ig gene to which MYC is transferred in eBL occurs at the V(D)J region, suggesting that translocation occurs during V(D)J recombination. (bmj.com)

Constitutional chromosome studies involving conventional GTG band cytogenetic analysis, however, often show unbalanced karyotypes which cannot be fully defined because the extra material is too small to have a recognisable banding pattern. (bmj.com)
Others have applied CGH to the study of constitutional chromosome abnormalities detected postnatally. (bmj.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)
Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. (wikipedia.org)

We have investigated a GTS family with a complex chromosomal insertion/translocation involving chromosomes 2 and 7. (eur.nl)

Although the structural chromosome abnormalities in these cases were too small to identify the origin of the extra genomic material based on banding pattern, none of the abnormalities described by these authors can be considered to be subtle or cryptic. (bmj.com)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)

Seven different mildew resistant wheat lines derived from crosses between triticale and bread wheat were examined by molecular cytogenetics and chromosome C-banding in order to determine their chromosomal composition. (unboundmedicine.com)

The distinguishable appearance of the wheat and rye chromosomes resulted in an efficient and sensitive method of detecting translocations. (illinois.edu)

At 30 kb proximal to the breakpoint in 4q21.3, we identified an as yet unannotated gene, C4orf12, that lacks an homologous counterpart in rodents and is expressed at a 33-fold higher level in human fibroblasts as compared to chimpanzee. (anthropogeny.org)

To investigate whether the genomic architecture might have facilitated the inversion, comparative sequence analysis was used to identify an approximately 5-kb inverted repeat in the breakpoint regions. (anthropogeny.org)
The breakpoints of the 1R inversion were between (1) the 5S rDNA site and the NOR-region on the satellite of the short arm, and (2) between two AAC(5) sites close to the centromere on the long arm. (unboundmedicine.com)

Detailed analysis of the respective chromosomal breakpoints is a prerequisite for any assessment of the genetic consequences of these inversions. (anthropogeny.org)
Genetic correlations between loci on different chromosomes can be high and can generate false positive linkage. (nervenet.org)

18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)

We discuss internal quality control measures, such as the mismatching of test and reference DNA in order to assess the quality of the competitive hybridisation effect on the X chromosome. (bmj.com)

These findings suggest a locus for myelofibrosis at chromosome 14q13. (nih.gov)

Genomes of individuals strains typically incorporate 45-55 recombinations between parental chromosomes. (nervenet.org)

Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA in cells. (medlineplus.gov)
Approximately 90% of breakpoints have been defined with a precision of better than ±2 cM. (nervenet.org)

An isochromosome is a chromosome with two identical arms. (medlineplus.gov)

An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)

The role of the rye chromosomes in the mildew resistance, the utilisation of the inverted 1R and the significance of the lines in wheat breeding are discussed. (unboundmedicine.com)

Chromosomal identification of marker chromosomes and extra bands on chromosomes through molecular techniques is always of clinical interest. (bmj.com)

a breakpoint in or near TGFBR3 in chromosome 1 was found in four of these tumors. (mendeley.com)

The probe containing a 120-bp repetitive DNA sequence from rye, hybridized to the entire length of all rye chromosomes, but only to a few sites in 14 wheat chromosomes. (illinois.edu)
As a result of the formation of a brown precipitate over sites of hybridization in this technique, the rye chromosomes were entirely brown in color, whereas the wheat chromosomes appeared blue. (illinois.edu)

Partial trisomy 18 occurs when part of the q arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. (medlineplus.gov)

This was in line with WGS and Cap-seq results, revealing variable breakpoints in chromosomes 1 and 10 and genomic breakpoints that should not yield functional fusion transcripts. (mendeley.com)

Replication studies in the mother and daughter showed a skewed X inactivation pattern in lymphocytes, with the normal X chromosome preferentially inactivated. (bmj.com)
In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise normal chromosomes. (bmj.com)
Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. (medlineplus.gov)

Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)

These breakpoints, at HSA4p14 and 4q21.3, do not disrupt the protein coding region of a gene, although they occur in regions with an abundance of LINE and LTR-elements. (anthropogeny.org)
we have shown here that the centromeric regions of the other two chromosomes in the chain (2 and 8) are similarly differentiated. (conicet.gov.ar)
The use of long molecules allows repetitive regions and other regions that are complicated to map, to be spanned more easily than with short molecules, leading to the creation of maps that may cover the hole arm of a chromosome (3). (mdanderson.org)

The affected father [46,XY,inv(2) (p23q22),ins(7;2) (q35-q36;p21p23)] and two affected children [46,XX,der(7)ins(7;2)(q35-q36;p21p23) and 46,XY,der(7)ins(7;2)(q35-q36;p213p23)] share a chromosome 2p21-p23 insertion on chromosome 7q35-q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2). (eur.nl)

A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by microarray analysis. (wikipedia.org)
Increasingly, microarray analysis is also being used to clarify breakpoints. (wikipedia.org)

Gain of function of the gene PAX9 on chromosome 14 is a possible candidate for a t(14;18) patient affected with mesomelic bone dysplasia. (nih.gov)

Anatomy66

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Diseases30

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes174

Disciplines and Occupations2

Technology, Industry, Agriculture2

Information Science4

Translocation breakpoints2

Balanced chromosome rearrangements1

Deletion11

Genes16

Deletions7

Short arm of chromosome 181

Rearrangements9

Human chromosome2

Copy of chromosome 182

Copies of chromosome 186

Breakage1

Situ3

Recombination5

Constitutional chromosome2

Abnormality2

Complex chromosomal1

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Humans1

Molecular cytogenetics1

Translocations1

Proximal1

Inversion2

Genetic2

Gene rich2

Hybridisation1

Locus1

Typically1

Approximately2

Identical1

Dozens1

Resistance1

Identification1

Tumors1

Wheat2

Partial1

Yield1

Normal3

Found1

Regions3

Protein1

Analysis2

Bone1