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Dong Soo Kim - One of the best experts on this subject based on the ideXlab platform.
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Cytogenetic Analysis of Starry Flounder Platichthys stellatus from Korea
2016Co-Authors: Kor Fish Aquat J Sci, Hyo Sun Jung, Youn Kyoung Kim, Hyun Chul Kim, Jae-koo Noh, Jong-ho Lee, Dong Soo KimAbstract:Cytogenetic Analysis was conducted to obtain basic information for chromosome manipulation of starry flounder Platichthys stellatus. Nuclear surface area and volume of erythrocyte were 7.60±0.93 μm2 and 12.80±1.75 μm3, re-spectively. The haploid DNA content of the species was 0.66 pg/haploid cell which correspond to 93 % of olive floun-der Paralichthys olivaceus. A karyotype Analysis was also carried out with the species using conventional staining and Ag-NOR banding techniques. It was consisted of 48 acrocentric chromosomes and inter-sex or intra-individua
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Cytogenetic Analysis of starry flounder platichthys stellatus from korea
Korean Journal of Fisheries and Aquatic Sciences, 2014Co-Authors: Hyo Sun Jung, Youn Kyoung Kim, Hyun Chul Kim, Jae-koo Noh, Jong-ho Lee, Dong Soo KimAbstract:【Cytogenetic Analysis was conducted to obtain basic information for chromosome manipulation of starry flounder Platichthys stellatus. Nuclear surface area and volume of erythrocyte were $7.60{\pm}0.93{\mu}m^2$ and $12.80{\pm}1.75{\mu}m^3$ , respectively. The haploid DNA content of the species was 0.66 pg/haploid cell which correspond to 93% of olive flounder Paralichthys olivaceus. A karyotype Analysis was also carried out with the species using conventional staining and Ag-NOR banding techniques. It was consisted of 48 acrocentric chromosomes and inter-sex or intra-individual polymorphism was not detected in all specimens analyzed. The NOR regions, appearing a terminal position of the short arm of the smallest acrocentric pairs.】
Lloyd M. Stoolman - One of the best experts on this subject based on the ideXlab platform.
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Acute biphenotypic leukaemia: immunophenotypic and Cytogenetic Analysis.
British journal of haematology, 1993Co-Authors: Curtis A. Hanson, Mohamed Abaza, Susan Sheldon, Charles W. Ross, Bertram Schnitzer, Lloyd M. StoolmanAbstract:Summary. The incidence of acute biphenotypic leukaemia has ranged from less than 1% to almost 50% in various reports in the literature. This wide variability may be attributed to a number of reasons including lack of consistent diagnostic criteria, use of various panels of antibodies, and the failure to recognize the lack of lineage specificity of some of the antibodies used. The morphology, cytochemistry, immunophenotype and Cytogenetics of acute biphenotypic leukaemias from our institution were studied. The diagnostic criteria took into consideration the morphology of the analysed cells, light scatter characteristics, and evaluation of antibody fluorescence histograms in determining whether the aberrant marker expression was arising from leukaemic blasts or differentiated bone marrow elements. Fifty-two of 746 cases (7%) fulfilled our criteria for acute biphenotypic leukaemias. These included 30 cases of acute lymphoblastic leukaemia (ALL) expressing myeloid antigens, 2 1 cases of acute myelogenous leukaemia (AML) expressing lymphoid markers, and one case of ALL expressing both B- and T-cell associated antigens. The acute biphenotypic leukaemia cases consisted of four major immunophenotypic subgroups: CD2f AML (11), CD19+ AML (8), CD13 and/or CD33+ ALL (24), CDllb+ ALL (5) and others (4). Chromosomal Analysis was carried out in 42/52 of the acute biphenotypic leukaemia cases: a clonal abnormality was found in 31 of these 42 cases. This study highlights the problems encountered in the diagnosis of acute biphenotypic leukaemia, some of which may be reponsible for the wide variation in the reported incidence of this leukaemia. We suggest that the use of strict, uniform diagnostic criteria may help in establishing a more consistent approach towards diagnosis of this leukaemic entity. We also suggest that biphenotypic leukaemia is comprised of biologically different groups of leukaemia based on immunophenotypic and Cytogenetic findings.
R Slater - One of the best experts on this subject based on the ideXlab platform.
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characterization of complex chromosomal abnormalities in uveal melanoma by fluorescence in situ hybridization spectral karyotyping and comparative genomic hybridization
Genes Chromosomes and Cancer, 2001Co-Authors: Nicole C Naus, Ellen Van Drunen, Annelies De Klein, Gregorius P M Luyten, Dion Paridaens, Janneke C Alers, Bruce R Ksander, Berna H Beverloo, R SlaterAbstract:Several nonrandom recurrent chromosomal changes are observed in uveal melanoma. Some of these abnormalities, e.g., loss of chromosome 3, gain of the q arm of chromosome 8, and chromosome 6 abnormalities, are of prognostic value. Cytogenetic Analysis and/or fluorescence in situ hybridization (FISH) are used to detect these changes. In some cases, however, detailed Cytogenetic Analysis is not possible due to the presence of complex abnormalities. To define more accurately these Cytogenetic changes, we have applied comparative genomic hybridization (CGH) and/or spectral karyotyping (SKY) to two uveal melanoma cell lines and five primary uveal melanomas, with partially defined and/or complex abnormalities. SKY provided additional information on 34/39 partially defined aberrant chromosomes and revealed a new abnormality, a der(17)t(7;17)(?;q?), that had not been recognized by conventional Cytogenetics. Additionally, using SKY, abnormalities involving chromosome 6 or 8 were found to be twice as common as observed with Cytogenetic Analysis. CGH was especially useful in assigning the abnormalities identified by SKY to specific chromosomal regions and, in addition, resulted in the detection of a small deletion of chromosome region 3q13 approximately 21. We conclude that SKY and CGH, as methods complementary to Cytogenetic and FISH Analysis, provide more complete information on the chromosomal abnormalities occurring in uveal melanoma.
Wayseen Wang - One of the best experts on this subject based on the ideXlab platform.
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Molecular Cytogenetic Analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.
American journal of medical genetics. Part A, 2006Co-Authors: Chih-ping Chen, Schu-rern Chern, Chen-chi Lee, Shuan-pei Lin, Chyi-chyang Lin, Yann-jang Chen, Lie-jiau Hsieh, Chen-wen Pan, Wayseen WangAbstract:An 11-year-old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organs revealed normal findings. Her karyotype was 46,XX,dup(5)(q35.2q35.3) de novo. Molecular Cytogenetic Analysis showed a paternally derived 5q35.2 --> q35.3 direct duplication and led to a correlation between the particular genotype and phenotype. This is the first description of a direct duplication of 5q35.2 --> q35.3. Our case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects. Our case also represents the smallest distal duplication of chromosome 5q that is associated with short stature and microcephaly. Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth. Our case provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature.
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Prenatal diagnosis and molecular Cytogenetic Analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia
Prenatal diagnosis, 2005Co-Authors: Schu-rern Chern, Dai Dyi Town, Chen-chi Lee, Tzu-hao Wang, Ding-wei Hsueh, Wayseen WangAbstract:Objectives To present the prenatal diagnosis and molecular Cytogenetic Analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH Analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker Analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in partial monosomy 10q (10q25.3qter) and partial trisomy 18q (18q23qter). Conclusions The present case provides evidence that partial monosomy 10q (10q25.3qter) with partial trisomy 18q (18q23qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic Analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations. Copyright © 2005 John Wiley & Sons, Ltd.
Jeremy A. Squire - One of the best experts on this subject based on the ideXlab platform.
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Molecular Cytogenetic Analysis of head and neck squamous cell carcinoma: By comparative genomic hybridization, spectral karyotyping, and expression array Analysis
Head & neck, 2002Co-Authors: Jeremy A. Squire, Jane Bayani, Catherine Luk, Lianne Unwin, Jason Tokunaga, Christina Macmillan, Jonathan C. Irish, Dale Brown, Patrick J. Gullane, Suzanne Kamel-reidAbstract:Background A combination of molecular Cytogenetic and expression array Analysis has been performed on head and neck squamous cell carcinoma (HNSCC) of the oral cavity and supraglottis. These studies were performed to identify consensus regions of chromosomal imbalance and structural rearrangement to determine whether genes located in these genomic regions are subject to alterations in gene expression. Such combinatorial studies may help to identify recurrent patterns of altered gene expression in the context of specific chromosomal changes. Methods Comparative genomic hybridization (CGH) was used to identify net genomic imbalances and spectral karyotyping (SKY) to visualize the numerical and structural chromosomal changes in metaphase preparations. Expression microarray Analysis of HNSCC cell lines and primary tongue tumors was also performed to identify genes that were commonly overexpressed or underexpressed compared with adjacent normal tissue. Results CGH detected gains at 3q (64%), 8q (45%) and 6q22-qter (45%) and losses at 18q22-qter (27%). SKY Analysis of seven cell lines identified frequent structural rearrangement of the following chromosomal regions: 3q, 5p13–q11.2, 5q32–q34, 7p12–q11.2, 8p12–q12, 9p, 10p, 13p13–q12, 14q11.1–q11.2, 15p13–q11.2, 16p11.1–q11.1, 18q22–q23, and 22p13–q11.2. Consistent deregulation of interleukin 8, integrin alpha-6, c-MYC, epithelial discoidin domain receptor 1, and sterol regulatory element binding protein were apparent by expression Analysis. Interestingly, some of these genes map to regions of genomic imbalance and chromosomal rearrangement as determined by our molecular Cytogenetic Analysis. Conclusions In this small study, a combinatorial Analysis using SKY, CGH, and microarray provides a model linking the changes in gene expression to changes in chromosomal dosage and structure. This approach has identified a subset of genetic changes that provide new opportunities for investigating the genetic basis of tumorigenesis in HNSCC. © 2002 Wiley Periodicals, Inc. Head Neck 24: 874–887, 2002
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molecular Cytogenetic Analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding comparative genomic hybridization and spectral karyotyping
Journal of Neurosurgery, 2000Co-Authors: Jane Bayani, Maria Zielenska, Paula Marrano, Michael D Taylor, Venita Jay, James T Rutka, Jeremy A. SquireAbstract:Object. Medulloblastomas and related primitive neuroectodermal tumors (PNETs) of the central nervous system are malignant, invasive embryonal tumors with predominantly neuronal differentiation that comprise 20% of pediatric brain tumors. Cytogenetic Analysis has shown that alterations in chromosome 17, particularly the loss of 17p and the formation of isochromosome 17q, as well as the gain of chromosome 7 are the most common changes among this group of tumors. Comparative genomic hybridization (CGH) studies have largely confirmed these Cytogenetic findings and have also identified novel regions of gain, loss, and amplification. The advent of more sophisticated multicolored fluorescence in situ hybridization (FISH) procedures such as spectral karyotyping (SKY) now permits complete recognition of all aberrations including extremely complex rearrangements. The authors report a retrospective Analysis of 19 medulloblastoma and five PNET cases studied using combinations of classic banding Analysis, FISH, CGH, a...
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malignant transformation in a ganglioglioma with anaplastic neuronal and astrocytic components report of a case with flow cytometric and Cytogenetic Analysis
Cancer, 1994Co-Authors: Venita Jay, Jeremy A. Squire, Laurence E Becker, Robin P HumphreysAbstract:Background. Malignant transformation of a gangli-oglioma is rare and is generally restricted to the glial component. The authors described a unique case in which neuronal and glial elements exhibited anaplasia in a gan-glioglioma. A subtotal resection of a large left temporal tumor extending into the diencephalon and brain stem in a 10-year-old boy revealed a ganglioglioma with no atypical features. The histologic findings were unchanged at further resections 4 and 12 months later. Radiotherapy was instituted with 5500 cGy in 30 fractions 21 months after initial resection. The patient returned 3 years later with a massive midline tumor recurrence. Methods. The tumor was studied by conventional histologic methods, immunohistochemistry, flow cyto-metric methods, transmission electron microscopy, immune electron microscopy, and Cytogenetic Analysis. Results. Although the first three resections revealed a typical ganglioglioma, the fourth resection revealed a cellular pleomorphic tumor with many multinucleated cells and mitoses. The tumor cells expressed glial fibril-lary acid protein (GFAP) and synaptophysin on double labeling. By electron microscopy, intermediate filaments, microtubules and abundant rough endoplasmic reticu-lum, and neurosecretory granules were seen. Immune electron microscopy showed GFAP and synaptophysin within tumor cells. Flow cytometric studies revealed G0G1, 78%; S-phase, 9%; and G2M, 13%. Tumor cytoge-netics on short term cultures revealed a complex abnormal karyotype with three sublines containing several structural chromosomal abnormalities. Conclusions. A unique anaplastic transformation of a ganglioglioma is reported with the anaplastic cells exhibiting neuronal and astrocytic features. Cancer 1994; 73:2862–8.
