Conventional Karyotyping and Fluorescence In Situ Hybridization for Detection of Chromosomal Abnormalities in Multiple Myeloma
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Multiple myeloma (MM) is a genetically heterogeneous disease, with cytogenetic findings that determine disease behavior. Genetic abnormalities can be assessed by fluorescence in situ hybridization (FISH) analysis and/or G-banded karyotyping. The two methods produce unique and overlapping information, and the clinical utility of using both is investigated here.Seventy patients diagnosed with MM at a hospital in Southern California were retrospectively reviewed for the FISH and G-banded karyotyping results obtained from bone marrow specimens.Karyotype was normal in 71% (50/70), abnormal in 27% (19/70), and inadequate in 1% (1/70). Among patients with abnormal karyotype, FISH provided additional information about genetic aberrations in 95% of cases (18/19). Among cases with abnormal FISH, karyotype provided additional information about genetic aberrations in 27% of cases (18/66). When numerical abnormalities were present (detected by FISH and/or karyotype), FISH detected them in 95% (54/57), of which karyotype missed 70% (38/54) of the time. Karyotyping detected numerical abnormalities in 33% (19/57), which FISH missed 16% (3/19) of the time.Karyotyping and FISH analysis in MM each provide unique information. For most patients, performing both tests together will provide more information than either test alone.The chromosome numbers and karyotype analyses of Kaempferia laotica Gapnep and K. rotunda L. belonging to family Zingiberaceae in Thailand were studied from root tips. The results show that the chromosome number of Kaempferia laotica and K. rotunda was found the same numbers to be 2n = 22 and the different karyotype formula with different in position of satellite chromosome has been found in 14m + 4sm + 4st (and one visible satellite chromosome) and 12m + 10sm (and one visible satellite chromosome), respectively. Therefore, chromosome structure, karyotype formula and satellite chromosomes can be used for classification in each species. The satellite chromosomes of both species are the first time reported. The karyotype of K. laotica was studied for the first time.
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Karyotype of two varieties of eggplant was analyzed.The results showed that the karyotype formulas of Pingdongchangqie is 2n=22m+2sm(2SAT),and the relative length of chromosome is 2n=10M1+14M2.The karyotype formulas of Ziqi is 2n=20m+4sm(2SAT),and the relative length of chromosome 2n=14M1+10M2.The number of chromosomes of the two varieties are 2n = 24.The karyotype of their chromosomes belongs to 2A type.
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Somatic cell karyotypes of three Elytrigia elongata accessions collected from different countries were studied using root tip squash method to provide cytological characteristics and systematic evolution.Results showed that the chromosome karyotype of EE001 collected from Xinjiang of China was K(2n)=10X=70=50m+16sm+4st,and the composition of relative length chromosome was 1L+17M2+15M1+2S.The chromosome karyotype of EE014 collected from Germany was K(2n)=10X=70=48m+20sm+2st,and the composition of relative length chromosome was 3L+14M2+13M1+5S.The chromosome karyotype of EE020 collected from Portugal was K(2n)=10X=70=38m+22sm+8st+2t,and the composition of relative length chromosome was 5L+11M2+15M1+4S.The chromosome karyotypes of three E.elongata accessions were belonged to 2B types.
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To assess the value of eight-probe fluorescence in situ hybridization (FISH) and R-banding karyotype analysis for the diagnosis of acute lymphoblastic leukemia (ALL).With the eight-probe FISH (using probes for MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH) and R-banding karyotype analysis, 237 cases of ALL were analyzed.Cytogenetic changes were detected in 135 (56.96%) of all cases, which have involved MYC, P16, E2A, CHIC2/D10Z1/D17Z1, TEL/AMLl, MLL, BCR/ABL1, and IGH polyploidies. R-banding karyotype analysis has only detected abnormalities in 48 of such cases, in addition with 14 abnormalities missed by the FISH probes, which have given a total positive rate of 26.16%. The detection rate of the two methods has differed significantly(P<0.05).Compared with the R-banding karyotype analysis, the eight-probe FISH is more accurate and efficient. Diagnosis of cytogenetic abnormalities for children with ALL using the combined method can provide a basis for evaluation of prognosis as well as personalized therapy.
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Objective: To evaluate the cytogenetics abnormalities in pediatric ALL cases and to correlate the cytogenetics Philadelphia chromosome - positive with the Fluorescence In - Situ Hybridization results.Methods: Retrospective cytogenetics and FISH analysis of the Bone marrow samples of both adult and pediatric patientswere done. However, since the inclusion criteria for this study was pediatric ALL, only the data of the pediatric patients were taken for this study. For the prospective samples, the cytogenetic analyses and Fluorescence in - Situ Hybridization were performed on the procured samples. The cytogenetics and FISH test were performed as per the standard protocol of our lab and were analysed as per the standard guideline. The cytogenetics Philadelphia chromosome - positive were correlated with the Fluorescence In - Situ Hybridization results and vice versa.Results: In our study of 50 pediatric ALLB patients, two patients showed low Ph+ by FISH. A confirmatory test by conventional cytogenetics revealed a rare association of Philadelphia chromosome positive along with the cytogenetics abnormality involving the MLL gene as well. One of the patient showed a karyotype of 46,XY,del(9)(p21),t((10;11)(p12;q21)[7]/46,XY,del(9)(p21)[9]/46,XYdel(22)(q11.2)[3] and the other patient showed 46, XX, t(9;11) (p13;q23)),?del(22)(q11.2)[6]/46,XX,del (11) (q23) [8]/46, XX[5] which were confirmed by cytogenetics and Fluorescence In - Situ Hybridization (FISH). Two patients showed complete Ph+ve and one patient showed normal karyotype along with tetraploidy. The rest of the cases showed either a normal karyotype or an insignificant abnormality.Conclusion: In our study of 50 pediatric ALL patients, two cases showed a rare association of Philadelphia chromosome positive along with a cytogenetics abnormality involving the MLL gene. Apart from the rare findings in our study, emphases is also made on the confirmatory test by cytogenetics incidence of low Ph+ve by FISH and vice versa and a need for larger collaborative studies and intense follow up of the treatment and the prognosis of this subset of patients to determine the prognostic pattern to improve the treatment options for these kind of rare patients.
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Multiple myeloma (MM) is a genetically heterogeneous disease, with cytogenetic findings that determine disease behavior. Genetic abnormalities can be assessed by fluorescence in situ hybridization (FISH) analysis and/or G-banded karyotyping. The two methods produce unique and overlapping information, and the clinical utility of using both is investigated here.Seventy patients diagnosed with MM at a hospital in Southern California were retrospectively reviewed for the FISH and G-banded karyotyping results obtained from bone marrow specimens.Karyotype was normal in 71% (50/70), abnormal in 27% (19/70), and inadequate in 1% (1/70). Among patients with abnormal karyotype, FISH provided additional information about genetic aberrations in 95% of cases (18/19). Among cases with abnormal FISH, karyotype provided additional information about genetic aberrations in 27% of cases (18/66). When numerical abnormalities were present (detected by FISH and/or karyotype), FISH detected them in 95% (54/57), of which karyotype missed 70% (38/54) of the time. Karyotyping detected numerical abnormalities in 33% (19/57), which FISH missed 16% (3/19) of the time.Karyotyping and FISH analysis in MM each provide unique information. For most patients, performing both tests together will provide more information than either test alone.
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The diploid chromosome number in root tip cells in Iseilema vaginjorum, I. membranaceum and Pseudoiseilema australiansis was found to be 2n=18. The chromosome number in P. australiansis and I. membranaceum are new reports. While the karyotypes in these three species are also reported here for the first time.The karyotypic studies in all the three species indicated that majority of the chromosomes had submedium and having very less difference in their total chromatin length. However, the three species are found to be distinct in regards to position of the sat chromosomes. The assymetrical karyotype in all these species indicated that they are in the advancing stage of evolution.The idiograms of all the three species indicated that except, the minor differnces in the position of sat pairs, they are very allied to each other and seem to have been originated from common ancestor.
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Background More than 50% of patients with myelodysplastic syndromes present cytogenetic aberrations at diagnosis. Partial or complete deletion of the long arm of chromosome 5 is the most frequent abnormality. The aim of this study was to apply fluorescence in situ hybridization of 5q31 in patients diagnosed with de novo myelodysplastic syndromes in whom conventional banding cytogenetics study had shown a normal karyotype, absence of metaphases or an abnormal karyotype without evidence of del(5q).Design and Methods We performed fluorescence in situ hybridization of 5q31 in 716 patients, divided into two groups: group A patients (n=637) in whom the 5q deletion had not been detected at diagnosis by conventional banding cytogenetics and group B patients (n=79), in whom cytogenetic analysis had revealed the 5q deletion (positive control group).Results In group A (n=637), the 5q deletion was detected by fluorescence in situ hybridization in 38 cases (5.96%). The majority of positive cases were diagnosed as having the 5q- syndrome. The deletion was mainly observed in cases in which the cytogenetics study had shown no metaphases or an aberrant karyotype with chromosome 5 involved. In group B (n=79), the 5q deletion had been observed by cytogenetics and was confirmed to be present in all cases by fluorescence in situ hybridization of 5q31.Conclusions Fluorescence in situ hybridization of 5q31 detected the 5q deletion in 6% of cases without clear evidence of del(5q) by conventional banding cytogenetics. We suggest that fluorescence in situ hybridization of 5q31 should be performed in cases of a suspected '5q- syndrome' and/or if the cytogenetic study shows no metaphases or an aberrant karyotype with chromosome 5 involved (no 5q- chromosome).
Comparative genomic hybridization
Molecular cytogenetics
Chromosome abnormality
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Abstract. Nineteen species of halocyprid ostracods were dissected and analysed for karyotype studies. Results were obtained for only six species, 5 belonging to Conchoecia and 1 to Halocypris. The uniformity in the chromosome morphology of these species (metacentric/submetacentric) is similar to that found for the cypridinids. The size range of their chromosomes falls within the lower end of the studied cypridinid species. The chromosome counts, in some preparations, were somewhat impaired by uncertain cell boundaries and widely scattered chromosomes. In these cases, the morphology of the identifiable chromosomes and their size ranges were noted and wherever possible a provisional karyotype was suggested.
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