The aberrant chromosomes were isolated by flow cytometry and used to map the chromosome 14 deletion or translocation ... The breakpoints of deletions and translocations in the proximal chromosome 14q region were defined in nine patients, four of ... Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes Am J Med ... The breakpoints of deletions and translocations in the proximal chromosome 14q region were defined in nine patients, four of ...
... and outcome of cases with either apparently balanced de novo rearrangements or de novo supernumerary marker chromosomes ... distribution of breakpoints among chromosomes was not as would be expected strictly on the basis of length. Most breaks were ... De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance ... and 1/2,500 an extra structurally abnormal chromosome of unidentifiable origin. The risk of a serious congenital anomaly was ...
Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning ... 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the ... and derivative 8 chromosomes (red signals) owing to the duplication of sequence at the X chromosome translocation breakpoint. ... 650 kb duplication at the X chromosome breakpoint in a female patient with an apparently balanced chromosome translocation t(X; ...
The translocation breakpoints between 1BS and alien chromatin fell in three categories: (i) at or near to the centromere, (ii) ... Most alien wheat lines carry whole chromosome arms, and it is notable that these lines showed intra-arm recombination within ... intermedium or rye) on chromosome 1B. The newly described rye 1RS chromatin, transmitted from early in the pedigree, was ... The results will facilitate directed chromosome engineering producing agronomically desirable WSMV-resistant germplasm. ...
Lapitan, NLV, Sears, RG, Rayburn, AL & Gill, BS 1986, Wheat-rye translocations: Detection of chromosome breakpoints by in situ ... Wheat-rye translocations: Detection of chromosome breakpoints by in situ hybridization with a biotin-labeled DNA probe. Journal ... Wheat-rye translocations : Detection of chromosome breakpoints by in situ hybridization with a biotin-labeled DNA probe. In: ... T2 - Detection of chromosome breakpoints by in situ hybridization with a biotin-labeled DNA probe ...
Our use of CGH to identify deletion breakpoints on chromosome 11 is a novel use of the CGH technique that will most likely lead ... We have also applied CGH to confirm the presence of subtle deletions and to clarify breakpoints in two cases of chromosome 11q ... The marker chromosome in case 10 was present as a ring chromosome of varying size in 75% of cells (fig 2). A completely normal ... G banded marker chromosomes and their CGH profiles. For case 10, the marker appeared to be a ring chromosome of varying size. ...
Cloning and sequencing of 8 chromosome breakpoints of the HRP II gene from one parasite isolate shows that the breakage occurs ... Cloning and characterization of chromosome breakpoints of Plasmodium falciparum: breakage and new telomere formation occurs ... We show that chromosome breakage and the formation of new telomeres occur frequently in the two genes coding for histidine rich ... A PCR based assay, using a telomere and a target-gene specific primer was used to detect potential chromosome rearrangements. ...
Increasingly, microarray analysis is also being used to clarify breakpoints. Prenatal diagnosis is possible via amniocentesis ... A ring-shaped chromosome is the result. In the case of ring 18, one of the two copies of chromosome 18 has formed a ring. ... Ring chromosome 18 is a genetic condition caused by a deletion of the two ends of chromosome 18 followed by the formation of a ... The phrase "ring 18" refers to the shape that the normally linear chromosome assumes when one tip of the chromosome joins the ...
Keywords: Animals, Base Composition, Cell Line, Centromere, Chromosome Breakage, Chromosome Inversion, Chromosomes, Chromosomes ... Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the ... The breakpoints of the inversion that distinguishes human chromosome 4 (HSA4) from its chimpanzee counterpart were identified ... These breakpoints, at HSA4p14 and 4q21.3, do not disrupt the protein coding region of a gene, although they occur in regions ...
Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in ... Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in ... Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in ... Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in ...
23] a recurring breakpoint at band 11q13, [24] abnormal karyotypes with frequent involvement of chromosome 6 and/or 16, [25] ... 48] Chromosome 1q gains and 6q deletions are other molecular characteristics that have been associated with worse outcomes ... NF2 mutations and chromosome 22q loss occur preferentially in intramedullary spinal ependymomas. Am J Pathol. 1999 Aug. 155(2): ... Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q. Neuro Oncol. 2021 Aug 2. 23 (8):1360-1370. [QxMD ...
The ability to identify structural variants and chromosome breakpoints in noncoding regions ... Complete uniparental heterodisomy (i.e., both chromosomes of a chromosome pair or chromosome segment are inherited from one ... Uniparental isodisomy (i.e., two copies of a single chromosome or chromosome segment are inherited from one parent and no copy ... Result from structural chromosome rearrangements (e.g., inversions, translocations). Note that chromosome rearrangements may be ...
Arrowheads identify the translocation breakpoints in the derivative chromosomes 11 and 22. B: Two interphase nuclei from a ... This translocation results in the fusion of the SYT gene on chromosome 18 to either the SSX1 or SSX2 gene on chromosome X. The ... Arrowheads identify the translocation breakpoints in the derivative chromosomes 11 and 22. B: Two interphase nuclei from a ... A few numerical imbalances such as extra copies of chromosome 8, gain of chromosome 21, and loss or partial deletions of ...
Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA ... Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002 Jan-Feb;4(1):15-9. doi: 10.1097 ... Some people have a chromosome 18 with a circular structure, which is called a ring chromosome 18. This type of chromosome is ... Partial monosomy of chromosome 18p (18p-) occurs when a piece of the p arm of this chromosome is deleted. Individuals with this ...
Rearrangement of the breakpoint cluster region (bcr) was observed. In the blast phase, blast cells showed early B-cell ... Lymphoid Blast Crisis in a Patient with Philadelphia-Chromosome-Negative Chronic Myelocytic Leukemia Subject Area: Hematology , ... A 24-year-old man with Philadelphia-chromosome (Ph)-negative chronic myelocytic leukemia (CML) developed lymphoid blast crisis ... Lymphoid Blast Crisis in a Patient with Philadelphia-Chromosome-Negative Chronic Myelocytic Leukemia. Acta Haematol 1 March ...
Genes Chromosomes and Cancer. Myxoinflammatory fibroblastic sarcoma (MIFS) has recurrent genetic features in the form of a ... This was in line with WGS and Cap-seq results, revealing variable breakpoints in chromosomes 1 and 10 and genomic breakpoints ... The breakpoints on chromosomes 1 and 10 in the t(1;10) cluster in or near the TGFBR3 and OGA genes, respectively. We here used ... The most common genomic rearrangements were breakpoints in or around the OGA, NPM3, and FGF8 genes in chromosome band 10q24, ...
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human ...
Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am ... from a specific region in the long (q) arm of chromosome 2. The deletions occur near the end of the chromosome at a location ... Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4, is likely to account for many of the ... Rarely, an affected individual inherits a copy of chromosome 2 with a deleted segment from an affected parent. In these cases, ...
the breakpoint on chromosome 20 is not constant; 20q- is frequently associated with other cytogenetic abnormalities as del(5q ... an interstitial or terminal deletion of the long arm of chromosome 20 (20q-) has been described as the second most frequent ... The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders.. Campbell LJ et al. ... Hematologic disorders associated with deletions of chromosome 20q: a clinicopathologic study of 107 patients.. Kurtin PJ et al ...
Genes Chromosomes and Cancer, 32(2), 144-154.. Khan, N., Wilkinson, T. J., Sellman, J. D., & Graham, P. J. (2001). Patterns of ... Nonrandom distribution of interspersed repeat elements in the BCR and ABL1 genes and its relation to breakpoint cluster regions ...
Mb across four chromosomes, further defining rare categories of extreme cxSV. These data provide a foundational map of large SV ... and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6  ... a A de novo complex reciprocal translocation with three breakpoints between chromosomes 2 (pink) and 6 (green) was discovered ... Each breakpoint from each set was only allowed to correspond to one non-redundant merged breakpoint, and each non-redundant ...
... recombinations per chromosome. Distances between breakpoints average 0.5 cM. Approximately 90% of breakpoints have been defined ... Calculation of chromosome map lengths . We computed the total numbers of crossovers per chromosome to obtain an estimate of ... The composite RI set, termed the BXN set, contains 4790 recombination breakpoints. The occurrence of breakpoints conforms to a ... The X chromosome only recombines with half the frequency of the autosomes and for this reason its expansion is only 1.8 fold. ...
B, three BRAF fusions involving translocations between chromosome 7 and chromosomes 16, 19, and 15 were identified in three ... Complementary DNA (cDNA) sequences surrounding the breakpoints are highlighted below each fusion; corresponding protein ... B, three BRAF fusions involving translocations between chromosome 7 and chromosomes 16, 19, and 15 were identified in three ... 1B). Finally, a chromosome 3 inversion produced an HACL-RAF1 fusion that harbored an intact RAF1 kinase domain (Fig. 1C). RNA- ...
Peptides derived from p190-breakpoint area are leukemia-specific antigens that may mediate an antitumor response toward p190+ ... e1a2 breakpoint) and in a 190 KD protein (p190) with constitutive tyrosine kinase activity. The advent of first- and ... H. J. Lee, J. E. Thompson, E. S. Wang, and M. Wetzler, "Philadelphia chromosome-positive acute lymphoblastic leukemia," Cancer ... p210 breakpoint-derived peptide included in the vaccine. p210-breakpoint peptide-specific CD4+ T cells isolated from vaccinated ...
The chromosome number was altered in 13 patients. Numerical changes occurred in 16 patients and breakpoint of chromosome 1 in 6 ... The chromosome number was altered in 13 patients. Numerical changes occurred in 16 patients and breakpoint of chromosome 1 in 6 ... Clonal acquired chromosome aberrations were found in 13 patients and a constitutional trisomy 18 as the sole change in 1. ... Clonal acquired chromosome aberrations were found in 13 patients and a constitutional trisomy 18 as the sole change in 1. ...
Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to ... is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7 ... analysis with confirmatory G-banded chromosome analysis. A 13.8 Mb interstitial deletion of the long arm of chromosome 7 ... K. Fagan, C. Kennedy, L. Roddick, and A. Colley, "An interstitial deletion of chromosome 7(q35)," Journal of Medical Genetics, ...
A Recurrent Chromosome Breakpoint in Breast Cancer at the NRG1/Neuregulin 1/Heregulin Gene Huai-En Huang; Suet-Feung Chin; ... View articletitled, A Recurrent Chromosome Breakpoint in Breast Cancer at the ,strong,,em,NRG1,/em,,/strong,/,strong,,em, ... View articletitled, Chromosome Transfer Induced Aneuploidy Results in Complex Dysregulation of the Cellular Transcriptome in ... Chromosome Transfer Induced Aneuploidy Results in Complex Dysregulation of the Cellular Transcriptome in Immortalized and ...
Isochromosome breakpoints on 17p in medulloblastoma are flanked by different classes of DNA sequence repeats. Genes Chromosomes ... An anthropoid-specific segmental duplication on human chromosome 1q22. Genomics, 88: 143-151. ...
In two of the families the breakpoint was shown to locate within a gene, indicating a role of the neurotrimin (NTM) gene in ... Surprisingly, an identical translocation between chromosomes 1 and 12, located outside any putative genes, was seen in both ... In all these three projects, the most important step was to identify the exact translocation breakpoints using paired end and ... In the past, cytogenetic techniques such as fluorescent in situ hybridization were used to locate the exact breakpoints while ...
In this study two cell lines derived from this tumor type have been used to indicate the breakpoint region on the X chromosome ... In the proximal region of the human X chromosome short arm, the position of evolutionary breakpoints with respect to key loci ... Mapping the X chromosome breakpoint in two papillary renal cell carcinoma cell lines with a t(X;1)(p11.2;q21.2) and the first ... The breakpoint was determined to lie in an uncloned region between SYP and a YAC called FTDM/1 which extends 1 Mb distal to ...