Genomes and Genes
Summary: The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
- Cheung P, Deng W, Man C, Tse W, Srivastava G, Law S, et al. Genetic alterations in a telomerase-immortalized human esophageal epithelial cell line: implications for carcinogenesis. Cancer Lett. 2010;293:41-51 pubmed publisher..Our data also revealed a novel positive regulation of p16(INK4a) on cyclin D1. These findings probably represent early crucial events and mechanisms in esophageal carcinogenesis. ..
- Machado I, Heinrich J, Campanhol C, Rodrigues Peres R, Oliveira F, Barini R. Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization. Genet Mol Res. 2010;9:441-8 pubmed publisher..G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood were performed...
- Pang S, Weng W, Flores Morales A, Johansson B, Pourian M, Nilsson P, et al. Cytogenetic and expression profiles associated with transformation to androgen-resistant prostate cancer. Prostate. 2006;66:157-72 pubmed..Our findings may serve as a basis for molecular dissection of the mechanisms involved in development of androgen resistant prostate cancer. ..
- Grigorova M, Lyman R, Caldas C, Edwards P. Chromosome abnormalities in 10 lung cancer cell lines of the NCI-H series analyzed with spectral karyotyping. Cancer Genet Cytogenet. 2005;162:1-9 pubmedThe karyotypes of 10 lung cancer cell lines of the NCI-H series were analyzed with spectral karyotyping (SKY): 7 non-small lung cancer (NSCLC) lines and 3 small cell lung cancer (SCLC) lines...
- Yamashita Y, Nishida K, Okuda T, Nomura K, Matsumoto Y, Mitsufuji S, et al. Recurrent chromosomal rearrangements at bands 8q24 and 11q13 in gastric cancer as detected by multicolor spectral karyotyping. World J Gastroenterol. 2005;11:5129-35 pubmedTo identify chromosomal translocations specific to gastric cancer (GC), spectral karyotyping (SKY) analysis was performed on established cell lines and cancerous ascitic fluids...
- Padilla Nash H, Barenboim Stapleton L, Difilippantonio M, Ried T. Spectral karyotyping analysis of human and mouse chromosomes. Nat Protoc. 2006;1:3129-42 pubmed..b>Spectral karyotyping (SKY), and the related multiplex fluorescence in situ hybridization (M-FISH), are chromosome-specific ..
- Saez B, Martin Subero J, Largo C, Martin M, Odero M, Prosper F, et al. Identification of recurrent chromosomal breakpoints in multiple myeloma with complex karyotypes by combined G-banding, spectral karyotyping, and fluorescence in situ hybridization analyses. Cancer Genet Cytogenet. 2006;169:143-9 pubmed..Therefore, we have used spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) with locus-specific probes to characterize the ..
- Varella Garcia M, Chen L, Powell R, Hirsch F, Kennedy T, Keith R, et al. Spectral karyotyping detects chromosome damage in bronchial cells of smokers and patients with cancer. Am J Respir Crit Care Med. 2007;176:505-12 pubmed..defined molecular cytogenetic changes in bronchial cells that may precede lung carcinoma using spectral karyotyping (SKY)...
- Matsui S, Faitar S, Rossi M, Cowell J. Application of spectral karyotyping to the analysis of the human chromosome complement of interspecies somatic cell hybrids. Cancer Genet Cytogenet. 2003;142:30-5 pubmed..b>Spectral karyotyping can identify each of the individual human chromosomes in a normal metaphase spread, as well as structural ..
- Paderova J, Orlic Milacic M, Yoshimoto M, da Cunha Santos G, Gallie B, Squire J. Novel 6p rearrangements and recurrent translocation breakpoints in retinoblastoma cell lines identified by spectral karyotyping and mBAND analyses. Cancer Genet Cytogenet. 2007;179:102-11 pubmed..Here, we report combined spectral karyotyping), 4',6-diamidino-2-phenylindole banding, mBAND, and locus-specific fluorescence in situ hybridization ..
- Salido M, Arriola E, Carracedo A, Cañadas I, Rovira A, Espinet B, et al. Cytogenetic characterization of NCI-H69 and NCI-H69AR small cell lung cancer cell lines by spectral karyotyping. Cancer Genet Cytogenet. 2009;191:97-101 pubmed publisher..the parental NCI-H69 (sensitive) and NCI-H69AR (anthracycline-resistant) cell lines by G-banding and spectral karyotyping (SKY)...
- Guo Q, Qin S, Zhou S, He L, Ma D, Zhang Y, et al. Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization. Eur J Clin Invest. 2009;39:729-37 pubmed publisher..we reported here a 20-year-old female with an unbalanced translocation (X;1) which was determined by spectral karyotyping, array-comparative genomic hybridization and subtelomeric fluorescence in situ hybridization (FISH)...
- Lu X, Harris C, Cooley L, Margolin J, Steuber P, Sheldon M, et al. The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia. Leukemia. 2002;16:2222-7 pubmedWe applied multicolor spectral karyotyping (SKY) to a panel of 29 newly diagnosed pediatric pre B-cell ALLs with normal and abnormal G-banded karyotypes to identify cryptic translocations and define complex chromosomal rearrangements...
- Karpova M, Schoumans J, Blennow E, Ernberg I, Henter J, Smirnov A, et al. Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in . Int J Oncol. 2006;28:605-17 pubmed..b>Spectral karyotyping (SKY) revealed a large number of structural and numerical chromosomal aberrations, many of which had not ..
- Speicher M, Carter N. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet. 2005;6:782-92 pubmed..The high resolution that is achieved by these techniques, particularly by microarray technologies such as array comparative genomic hybridization, is blurring the traditional distinction between cytogenetics and molecular biology. ..
- Matthaei A, Werner W, Gerlach E, Koerner U, Tinschert S, Nitz I, et al. Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis. Eur J Med Genet. 2005;48:328-38 pubmed..in the propositus and the detection of its reciprocity in the father were achieved by the application of spectral karyotyping (SKY)...
- Matsui S, Sait S, Jones C, Nowak N, Gross K. Rapid localization of transgenes in mouse chromosomes with a combined Spectral Karyotyping/FISH technique. Mamm Genome. 2002;13:680-5 pubmedWe explored the feasibility of combined Spectral Karyotyping (SKY) and Fluorescence In Situ Hybridization (FISH) as means to rapidly map a chromosomally integrated renin/green fluorescent protein (GFP) fusion gene construct (Ren-GFP) in ..
- Sarraf S, Tejada R, Abawi M, Oberst M, Dennis T, Simon K, et al. The human ovarian teratocarcinoma cell line PA-1 demonstrates a single translocation: analysis with fluorescence in situ hybridization, spectral karyotyping, and bacterial artificial chromosome microarray. Cancer Genet Cytogenet. 2005;161:63-9 pubmed..The PA-1 cell line was studied with fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), bacterial artificial chromosome (BAC) microarray, and Western blotting...
- Imataka G, Takaya Y, Hagisawa S, Yamanouchi H, Eguchi M. Trisomy 11/22 diagnosed by spectral karyotyping (SKY). Genet Couns. 2004;15:391-4 pubmed
- Yoshimoto M, Graham C, Chilton MacNeill S, Lee E, Shago M, Squire J, et al. Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC-DUX4 fusion gene event. Cancer Genet Cytogenet. 2009;195:1-11 pubmed publisher..The present study applied high-throughput array comparative genomic hybridization together with spectral karyotyping, four-color fluorescence in situ hybridization (FISH), and reverse transcriptase-polymerase chain reaction (..
- Kato K, Oh Y, Takita J, Gunji Y, Kobayashi C, Yoshimi A, et al. Molecular genetic and cytogenetic analysis of a primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma. Int J Hematol. 2016;103:196-201 pubmed publisher..b>Spectral karyotyping revealed numerous structural abnormalities...
- Loja T, Kuglik P, Oltova A, Smuharova P, Zitterbart K, Bajciova V, et al. The optimization of sample treatment for spectral karyotyping with applications for human tumour cells. Cytogenet Genome Res. 2007;116:186-93 pubmedb>Spectral karyotyping (SKY) represents an important tool for the investigation of the complex chromosomal rearrangements (CCRs) in many human malignancies which may be difficult to characterize by conventional banding techniques...
- Zenzen V, Zankl H. In vitro evaluation of the cytotoxic and mutagenic potential of the 5-aminolevulinic acid hexylester-mediated photodynamic therapy. Mutat Res. 2004;561:91-100 pubmed..In addition to the cytogenetic analysis, spectral karyotyping (SKY) was used to characterize the cell lines and gain more detailed information on possibly PDT-induced CA...
- Lindvall C, Furge K, Bjorkholm M, Guo X, Haab B, Blennow E, et al. Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes. Haematologica. 2004;89:1072-81 pubmed..In addition, the samples were analyzed by G-banding and/or spectral karyotyping and comparative genomic hybridization...
- Jiang W, Wang X, Unger T, Forgues M, Kim J, Hussain S, et al. Cooperation of tumor-derived HBx mutants and p53-249(ser) mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal human hepatocyte-derived cell line. Int J Cancer. 2010;127:1011-20 pubmed publisher..Our results are consistent with the hypothesis that certain mutations in HBx and p53 at codon 249 may cooperate in contributing to liver carcinogenesis. ..
- Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, et al. A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers. Prenat Diagn. 2007;27:783-5 pubmed..This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established. ..
- Batstone P, Forsyth L, Goodlad J. Cytogenetic evidence for the origin of neoplastic cells in CD5-positive marginal zone B-cell lymphoma. Hum Pathol. 2003;34:1065-7 pubmed..These results, combined with the clinical, histological, and immunophenotypic picture, suggest a marginal zone origin for the neoplastic lymphocytes, rather than a relationship with mantle cell or small lymphocytic lymphoma. ..
- Rao P, Nandula S, Murty V. Molecular cytogenetic applications in analysis of the cancer genome. Methods Mol Biol. 2007;383:165-85 pubmed publisher..The opportunities to detect genetic alterations in cancer cells continue to evolve with the use of these methodologies both in diagnosis and research. ..
- Tonon G, Gehlhaus K, Yonescu R, Kaye F, Kirsch I. Multiple reciprocal translocations in salivary gland mucoepidermoid carcinomas. Cancer Genet Cytogenet. 2004;152:15-22 pubmed..We performed comparative genomic hybridization (CGH) and spectral karyotyping (SKY) on two tumor cell lines: H3118, derived from tumor originating in the parotid gland, and H292, from ..
- Micci F, Panagopoulos I, Tjønnfjord G, Kolstad A, Delabie J, Beiske K, et al. Molecular cytogenetic characterization of t(14;19)(q32;p13), a new recurrent translocation in B cell malignancies. Virchows Arch. 2007;450:559-65 pubmed..Other pathogenetic possibilities could be deregulation of the neighboring NOTCH3 and/or ABHD9 genes, located distal to BRD4 in 19p13. ..
- Lebedev I, Ostroverkhova N, Nikitina T, Sukhanova N, Nazarenko S. Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis. Eur J Hum Genet. 2004;12:513-20 pubmed..The results of molecular cytogenetic analysis of these cell culture failures illustrate that the diversity and phenotypic effects of chromosomal abnormalities during the early stages of human development are underestimated. ..
- Wong S, Keyvanfar K, Wan Z, Kajigaya S, Young N, Zhi N. Establishment of an erythroid cell line from primary CD36+ erythroid progenitor cells. Exp Hematol. 2010;38:994-1005.e1-2 pubmed publisher..The CD36E cell line would be an excellent tool for applied research involving erythroid lineage cells and comparative studies with primary CD36(+) EPCs. ..
- Ishiguro M, Iwasaki H, Takeshita M, Hirose Y, Kaneko Y. A cytogenetic analysis in two cases of malignant peripheral nerve sheath tumor showing hypodiploid karyotype. Oncol Rep. 2006;16:225-32 pubmed..However, there are few cases described in detail on a morphologic pattern of MPNST, a correlation between the cytogenetic aberrations and the histologic patterns are still uncertain. ..
- Nishio J, Aoki M, Nabeshima K, Iwasaki H, Naito M. Characterization of giant marker and ring chromosomes in a pleomorphic leiomyosarcoma of soft tissue by spectral karyotyping. Oncol Rep. 2012;28:533-8 pubmed publisher..b>Spectral karyotyping demonstrated that giant marker and ring chromosomes were composed of material from the X ..
- Clouston H, Herbert M, Fenwick J, Murdoch A, Wolstenholme J. Cytogenetic analysis of human blastocysts. Prenat Diagn. 2002;22:1143-52 pubmed..It appears that the general range and incidence of most main groups of constitutional abnormalities observed in the first trimester (including mosaic forms) are in place by the blastocyst stage. ..
- Nagoshi H, Taki T, Hanamura I, Nitta M, Otsuki T, Nishida K, et al. Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality. Cancer Res. 2012;72:4954-62 pubmed publisher..3%) and 5 of 8 cell lines (62.5%) with 8q24 abnormalities. A combination of spectral karyotyping (SKY), FISH, and oligonucleotide array identified several partner loci of PVT1 rearrangements, such as 4p16,..
- Shimoyama M, Yamamoto K, Nishikawa S, Minagawa K, Katayama Y, Matsui T. Duplication of isodicentric chromosome 21, idic(21)(p11.2), leading to pentasomy 21q in acute myeloid leukemia with multilineage dysplasia. Cancer Genet Cytogenet. 2009;194:38-43 pubmed publisher..Chromosome analysis and spectral karyotyping showed 47,XY,+21,idic(21)(p11.2)x2, leading to pentasomy 21q...
- Tamaska J, Adam E, Kozma A, Gopcsa L, Andrikovics H, Tordai A, et al. Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. Virchows Arch. 2006;449:479-83 pubmed..To the best of our knowledge, this is the first reported T-cell lymphoma case with ring chromosome 7. ..
- Haines B, Ryu C, Chang S, Protopopov A, Luch A, Kang Y, et al. Block of T cell development in P53-deficient mice accelerates development of lymphomas with characteristic RAG-dependent cytogenetic alterations. Cancer Cell. 2006;9:109-20 pubmed..These findings provide genetic evidence that block of lymphocyte development at stages with RAG endonuclease activity can provoke lymphomagenesis on a background with deficient DNA damage responses. ..
- Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H. Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. Am J Med Genet A. 2006;140:503-8 pubmed..newborn girl who had both Axenfeld-Rieger syndrome and the combined type of PHPV, in whom the G-banding and spectral karyotyping revealed a 6p monosomy of terminal deletion with a breakpoint at chromosome 6p25.1...
- Berglund M, Flordal E, Gullander J, Lui W, Larsson C, Lagercrantz S, et al. Molecular cytogenetic characterization of four commonly used cell lines derived from Hodgkin lymphoma. Cancer Genet Cytogenet. 2003;141:43-8 pubmed..Using spectral karyotyping (SKY), reversed DAPI banding, and comparative genomic hybridization (CGH), the karyotypes were ..
- Gole L, Lim J, Crolla J, Loke K. Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Med J. 2008;49:349-51 pubmed
- Lee J, Foukakis T, Hashemi J, Grimelius L, Heldin N, Wallin G, et al. Molecular cytogenetic profiles of novel and established human anaplastic thyroid carcinoma models. Thyroid. 2007;17:289-301 pubmed..Several nonrandom breakpoints were identified by spectral karyotyping (SKY) and G-banding in these lines including the novel 1p36 and 17q24-25 as well as 3p21-22 and 15q26 that ..
- Saito H, Otsubo K, Kakimoto A, Komatsu N, Ohsaka A. Emergence of two unrelated clones in acute myeloid leukemia with MLL-SEPT9 fusion transcript. Cancer Genet Cytogenet. 2010;201:111-5 pubmed publisher..1),del(6)(q?) by G-banding. Spectral karyotyping analysis identified a reciprocal translocation between chromosomes 11 and 17, and a translocation of the q ..
- Ariizumi T, Ogose A, Kawashima H, Hotta T, Li G, Xu Y, et al. Establishment and characterization of a novel dedifferentiated liposarcoma cell line, NDDLS-1. Pathol Int. 2011;61:461-8 pubmed publisher..The NDDLS-1 cell line is consistent with the parental dedifferentiated liposarcoma, and it should therefore be useful for further investigations of human dedifferentiated liposarcomas...
- Motoyama M, Takahashi K, Ogawa S, Ohno M, Yoshizawa M, Fukui E, et al. Chromosome analysis by spectral karyotyping of spermatozoa from an oligoasthenozoospermic carrier of a 10; 21 reciprocal translocation. Hum Cell. 2011;24:146-9 pubmed publisher..Cytogenetic analysis of 39 spermatozoa was performed by spectral karyotyping (SKY) and by ICSI into mouse oocytes...
- Sambade C, Berglund M, Lagercrantz S, Sallstrom J, Reis R, Enblad G, et al. U-2940, a human B-cell line derived from a diffuse large cell lymphoma sequential to Hodgkin lymphoma. Int J Cancer. 2006;118:555-63 pubmed
- Bonnet Garnier A, Guardia S, Pinton A, Ducos A, Yerle M. Analysis using sperm-FISH of a putative interchromosomal effect in boars carrying reciprocal translocations. Cytogenet Genome Res. 2009;126:194-201 pubmed publisher..The structure of the translocation could play a role, but complementary studies should be carried out to confirm this assumption. ..
- Betts D, Stanchescu R, Niggli F, Cohen N, Rechavi G, Amariglio N, et al. SKY reveals a high frequency of unbalanced translocations involving chromosome 6 in t(12;21)-positive acute lymphoblastic leukemia. Leuk Res. 2008;32:39-43 pubmed..To investigate the nature of additional chromosomal events in this group of patients spectral karyotyping (SKY) following G-banding analysis was performed in 14 cases...
- Matsuda K, Hidaka E, Ishida F, Yamauchi K, Makishima H, Ito T, et al. A case of acute myelogenous leukemia with MLL-AF10 fusion caused by insertion of 5' MLL into 10p12, with concurrent 3' MLL deletion. Cancer Genet Cytogenet. 2006;171:24-30 pubmed..b>Spectral karyotyping (SKY) analysis indicated that one green signal was detected on the short arm of derivative chromosome 10, ..
- Tabata R, Tabata C, Nagai T, Yasumizu R, Kojima M. Nodal marginal zone B cell lymphoma with prominent follicular colonization with deletion of chromosome 13. Pathol Res Pract. 2012;208:679-82 pubmed publisher..This type of chromosomal abnormality has not been previously reported and may be related to good prognosis in the present case. ..
- Dong L, Falk R, Williams J, Kohan M, Schreck R. Tetrasomy 12p--unusual presentation in CVS. Prenat Diagn. 2003;23:101-3 pubmed..This case also indicates that mosaicism for supernumerary isochromosomes may have a complex origin. ..