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Cytogenetics
Kinds of Cytogenetics Selected AbstractsResults of the PETHEMA ALL-96 trial in elderly patients with Philadelphia chromosome-negative acute lymphoblastic leukemiaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2007Juan-Manuel Sancho Abstract Background and aim:,Only 20,30% of elderly patients with acute lymphoblastic leukemia (ALL) are enrolled in clinical trials because of co-morbid disorders or poor performance status. We present the results of treatment of Philadelphia chromosome-negative (Ph,) ALL patients over 55 yr treated in the PETHEMA ALL-96 trial. Patients and methods:,From 1996 to 2006, 33 patients 55 yr with Ph, ALL were included. Induction therapy was vincristine, daunorubicin, prednisone, asparaginase, and cyclophosphamide over 5 weeks. Central nervous system (CNS) prophylaxis involved triple intrathecal (IT) therapy, 14 doses over the first year. Consolidation-1 included mercaptopurine, methotrexate, teniposide and cytarabine, followed by one consolidation-2 cycle similar to the induction cycle. Maintenance consisted of mercaptopurine and methotrexate up to 2 yr in complete remission (CR) with monthly reinduction cycles (vincristine, prednisone and asparaginase) during the first year. Results:,Median (range) age was 65 yr (56,77). Phenotype (30 patients): early-pre-B 7, common/pre-B 18, T 5. Cytogenetics (28 patients): normal 12, complex 10, t(4;11) 2 and other 4. CR was achieved in 19/33 (57.6%) patients, early death occurred in 12 (36.4%) and 2 (6%) were resistant. Overall survival and disease-free survival probabilities (2 yr, 95% CI) were 39% (21%,57%) and 46% (22%,70%), respectively (median follow up of 24 months). Removal of asparaginase and cyclophosphamide from the induction decreased induction death (OR 0.119, CI 95% 0.022,0.637, P = 0.013) and increased survival (20% vs. 52%, P = 0.05). Conclusions:,The prognosis of elderly Ph, ALL patients is poor. In this study, less intensive induction decreased toxic death, allowing delivery of planned consolidation therapy and increased survival probability. [source] Application of combined immunofluorescence and fluorescence in situ hybridization on paraffin-embedded sections to characterize T-cell lymphoma with EBV-infected B-cell blastsGENES, CHROMOSOMES AND CANCER, Issue 4 2004Genevieve K. Temple Combined immunofluorescence (IF) and fluorescence in situ hybridization (FISH) on formalin-fixed, paraffin-embedded tissue sections were used to examine lymph node tissue from two patients diagnosed with T-cell lymphoma with Epstein,Barr virus (EBV),infected B-cell blasts. The majority of cells within the samples comprised T-cells staining positively for CD3. In addition, both patients had a population of large pleiomorphic cells that were positive for the B-cell marker CD20 and for EBV LMP-1. Standard PCR clonality testing of the nodes revealed both immunoglobulin heavy chain (IGH) and T-cell receptor (TCR) clonal rearrangements in one patient, although in the other case monoclonality was demonstrated only for TCRG. Cytogenetics of cultured lymphocytes from nodal tissue revealed two apparently unrelated abnormal clones in both patients. Combined IF and FISH revealed that these phenomena reflected two abnormal populations of B- and T-cells rather than reactive B-cell hyperplasia or biphenotypic evolution from a common ancestral lymphoma. True B-cell malignancy probably emerged within a preexisting but unrelated T-cell lymphoma. This is the first study to relate the phenotype of the abnormal cells in such cases to specific clonal populations of cells, and it demonstrates a method that may easily be introduced into a diagnostic cytogenetics laboratory with access to standard pathology laboratory resources. © 2004 Wiley-Liss, Inc. [source] Current Awareness in Hematological OncologyHEMATOLOGICAL ONCOLOGY, Issue 2 2008Article first published online: 28 MAY 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of hematological oncology. Each bibliography is divided into 14 sections: 1 Reviews; 2 General; Leukemias: 3 Lymphoblastic; 4 Myeloid & Myelodysplastic Syndromes; 5 Chronic; 6 Others; Lymphomas: 7 Hodgkin's; 8 Non-Hodgkin's; 9 Plasmacytomas/Multiple Myelomas; 10 Others; 11 Bone Marrow Transplantation; 12 Cytokines; 13 Diagnosis; 14 Cytogenetics. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted. [source] Current Awareness in Hematological OncologyHEMATOLOGICAL ONCOLOGY, Issue 4 2003Article first published online: 15 JAN 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of hematological oncology. Each bibliography is divided into 14 sections: 1 Books, Reviews & Symposia; 2 General; Leukemias: 3 Lymphoblastic; 4 Myeloid & Myelodysplastic Syndromes; 5 Chronic; 6 Others; Lymphomas: 7 Hodgkin's; 8 Non-Hodgkin's; 9 Plasmacytomas/Multiple Myelomas; 10 Others; 11 Bone Marrow Transplantation; 12 Cytokines; 13 Diagnosis; 14 Cytogenetics. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted. [source] Current Awareness in Hematological OncologyHEMATOLOGICAL ONCOLOGY, Issue 4 2002Article first published online: 5 DEC 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of hematological oncology. Each bibliography is divided into 14 sections: 1 Books, Reviews & Symposia; 2 General; Leukemias: 3 Lymphoblastic; 4 Myeloid & Myelodysplastic Syndromes; 5 Chronic; 6 Others; Lymphomas: 7 Hodgkin's; 8 Non-Hodgkin's; 9 Plasmacytomas/Multiple Myelomas; 10 Others; 11 Bone Marrow Transplantation; 12 Cytokines; 13 Diagnosis; 14 Cytogenetics. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted. [source] Current Awareness in Hematological OncologyHEMATOLOGICAL ONCOLOGY, Issue 3 2002Article first published online: 29 AUG 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of hematological oncology. Each bibliography is divided into 14 sections: 1 Books, Reviews & Symposia; 2 General; Leukemias: 3 Lymphoblastic; 4 Myeloid & Myelodysplastic Syndromes; 5 Chronic; 6 Others; Lymphomas: 7 Hodgkin's; 8 Non-Hodgkin's; 9 Plasmacytomas/Multiple Myelomas; 10 Others; 11 Bone Marrow Transplantation; 12 Cytokines; 13 Diagnosis; 14 Cytogenetics. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted. [source] Current Awareness in Hematological OncologyHEMATOLOGICAL ONCOLOGY, Issue 4 2001Article first published online: 17 DEC 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of hematological oncology. Each bibliography is divided into 14 sections: 1 Books, Reviews & Symposia; 2 General; Leukemias: 3 Lymphoblastic; 4 Myeloid & Myelodysplastic Syndromes; 5 Chronic; 6 Others; Lymphomas: 7 Hodgkin's; 8 Non-Hodgkin's; 9 Plasmacytomas/Multiple Myelomas; 10 Others; 11 Bone Marrow Transplantation; 12 Cytokines; 13 Diagnosis; 14 Cytogenetics. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted. [source] Effects of climate and local aridity on the latitudinal and habitat distribution of Arvicanthis niloticus and Arvicanthis ansorgei (Rodentia, Murinae) in MaliJOURNAL OF BIOGEOGRAPHY, Issue 1 2004B. Sicard Abstract Introduction, The genus Arvicanthis (Lesson 1842) (Rodentia: Murinae), usually referred to as the unstriped grass rat, is mainly distributed in savanna and grassland habitats of Sub-Saharan Africa. Among the four chromosomal forms of Arvicanthis recently differentiated in Western and Central Africa, the one with a diploid chromosomal number (2n) of 62 and an autosomal fundamental number (NFa) of 62 or 64 is ascribed to Arvicanthis niloticus (Demarest 1822), while the one with 2n = 62 and a NFa between 74 and 76 is referred to A. ansorgei (Thomas 1910). Despite the broad area of sympatry recently uncovered along the inner delta of the Niger river in Mali [details in Volobouev et al. (2002) Cytogenetics and Genome Research, 96, 250,260], the distribution of the two species is largely parapatric and follows the latitudinal patterns of the West-African biogeographical domains, which are related to the latitudinal patterns of annual rainfall in this region. Here, we analyse the suggestion that the two species show specific adaptations to differences in climate aridity. Methods, Karyologically screened animals were sampled in 19 localities in seasonally flooded regions located along the ,Niger' river in Mali and extending from 1100 to 200 mm of mean annual rainfall. The analysis of trapping success (TS) data allowed us to investigate the respective effects of climate (i.e. annual rainfall) and local (i.e. duration of the green herbaceous vegetation) aridity on the latitudinal and habitat distribution of the two species. Conclusions, The broad zone of sympatry was found to correspond to a northward expansion of the recognized distribution area of A. ansorgei. TS values indicated that the two species responded very differently to climatic and local conditions of aridity. Arvicanthis ansorgei decreased in TS as regional conditions became more arid; a similar trend was also observed within regions where habitat occupancy decreased with local aridity. The higher TS observed in the most humid habitat relative to the others persisted throughout the latitudinal rainfall gradient. In contrast, TS of A. niloticus increased with latitudinal aridity. This species was present in more arid habitats than A. ansorgei from 1000 mm down to 400 mm of mean annual rainfall where a shift to the most humid habitat occurred. These opposite trends in TS distribution between species suggest that A. ansorgei is less adapted than A. niloticus to arid environments at both a regional and habitat level; thus, A. ansorgei would be able to invade dry regions only along the extensive floodplains bordering the inner delta of the ,Niger' river. Several biological traits that may be involved in limiting the southward distribution of A. niloticus are discussed. [source] Clear cell sarcoma of soft tissue: diagnostic utility of fluorescence in situ hybridization and reverse transcriptase polymerase chain reactionJOURNAL OF CUTANEOUS PATHOLOGY, Issue 4 2008Choladda V. Curry A 7-year-old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass showed nests of large round to oval neoplastic cells with abundant amphophilic to clear cytoplasm, prominent nucleoli and high mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S-100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the mass was re-excised with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and wedge excision showed metastatic CCSS. Cytogenetics showed a complex karyotype (unbalanced translocation der(12;14)(q10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). Reverse transcription polymerase chain reaction (RT-PCR) showed an EWS-ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, because of overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS-defining translocation. [source] Clear Cell Sarcoma of Soft Tissue with Cytogenetic and Molecular AnalysesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2006C. Vejabhuti A 7-year-old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass demonstrated nests of large oval tumor cells with high nuclear-to-cytoplasm ratio, amphophilic to clear cytoplasm, prominent nucleoli, and brisk mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S-100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the tumor was re-excision with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and showed CCSS. Cytogenetics demonstrated a complex karyotype (unbalanced translocation der(12;14)(p10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). RT-PCR demonstrated an EWS-ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, due to overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles, and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS tumor-defining translocation. [source] Long term follow-up of allogeneic stem cell transplantation in patients with myelodysplastic syndromes using busulfan, cytosine arabinoside, and cyclophosphamide,AMERICAN JOURNAL OF HEMATOLOGY, Issue 8 2010Ehab Atallah We report here the 10-year follow-up of 86 patients who underwent allogeneic stem cell transplantation (ASCT) for myelodysplastic syndrome (MDS). All patients received the busulfan, cytosine arabinoside, and cyclophosphamide (BAC) preparative regimen which consisted of busulfan 16 mg/kg, cytosine arabinoside 8 g/m2 IV, and cyclophosphamide 120 mg/kg IV. Fifty-nine patients (69%) had de novo MDS; 26 (30%) had secondary MDS (treatment related), and one had a preceding aplastic anemia which progressed to MDS before transplant. Cytogenetics (80 patients) was classified as good (34%), intermediate (17%), or poor (42%). With a median follow-up for survivors of 124 months, the 10-year Kaplan-Meier estimates for overall survival (OS) was 43% (95% confidence interval [CI]: 31,53%). Cumulative nonrelapse mortality (NRM) and relapse was 43% (95% CI: 32,54%) and 19% (95% CI: 11,27%), respectively. No patient relapsed after 2 years. In patients with RAEB-T/AML, 10-year relapse-free survival (RFS), relapse, and NRM was 36%, 36%, and 27%, respectively. Younger age (P = 0.05), human leukocyte antigen (HLA) match (P = 0.002), good risk cytogenetics (P = 0.008), and having a related donor (P = 0.03) significantly improved overall and RFS in the multivariable analysis. The long-term follow-up of patients receiving the BAC regimen with ASCT in this study indicated durable relapse-free and OS with acceptable toxicity in this group of patients with high-risk features. Am. J. Hematol., 2010. © 2010 Wiley-Liss, Inc. [source] Intensive induction chemotherapy with regimen containing intermediate dose cytarabine in the treatment of de novo acute myeloid leukemia,AMERICAN JOURNAL OF HEMATOLOGY, Issue 7 2009Jiazhuo Liu To improve long-term outcome of de novo acute myeloid leukemia (AML) patients by intermediate dose of cytarabine integrated in induction therapy and to explore the impact of cytogenetic abnormalities on the prognosis. Eighty-seven AML patients were treated with HAD regimen containing intermediate dose cytarabine (IDAra-C) as induction therapy, 83 from which with karyotype results were divided into three cytogenetic groups according to SWOG criteria. Complete remission (CR) rate, disease-free survival (DFS), and overall survival (OS) among different groups were evaluated. The CR rate of the 87 cases was 80/87 (92%). Median DFS and OS have not reached (NR). DFS rates at 1 and 3 years were 76.3% and 63.4%, respectively. OS rates at 1 and 3 years were 86.0% and 58.7%, respectively. According to SWOG criteria, CR rate, median DFS, and OS were 100%, NR and NR for the favorable group; 88.9%, NR, and 16 months for the intermediate group; 83.3%, 4.5 months, and 7.5 months for the adverse group. The differences among the three groups were statistically significant excepting for CR rate between adverse and intermediate groups. HAD regimen containing IDAra-C as induction chemotherapy regimen is effective in de novo AML of adult patients and can achieve higher CR rate and longer survival than standard dose of cytarabine (SDAra-C) regimen. Most of the patients were able to endure the therapy. Cytogenetics is still an important prognostic factor despite of the incorporation of IDAra-C in induction chemotherapy. The differences among the three groups were statistically significant. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source] Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypesAMERICAN JOURNAL OF HEMATOLOGY, Issue 12 2007Anwar N. Mohamed We identified 120 multiple myeloma (MM) cases with satisfactory cytogenetic evaluation and abnormal karyotypes. Hyperdiploid karyotype was found in 77 cases (64%), hypodiploid in 30 cases (25%), and the remaining 13 cases (11%) had a pseudodiploid karyotype. The most common numerical abnormalities were gains of chromosomes 15, 9, 3 followed by chromosomes 19, 11, 7, 21, and 5. Whole chromosome losses were also frequent involving primarily chromosomes X/Y, 8, 13, 14, and 22. Most cases showed also structural rearrangements leading to del(1p), dup(1q), del(5q), del(6q), del(8p), del(9p), del(13q), and del(17p). Chromosome 13/13q deletion was found in 52% of cases; complete loss of 13 was observed in 73% of cases, whereas 27% had interstitial deletions. In addition, 13/13q deletions occurred in 75% of nonhyperdiploid myeloma but only 39% of the hyperdiploid had 13/13q deletions. Translocations affecting 14q32/IGH region was seen 40 cases; t(11;14)(q13;q32) in 17 cases, t(14;16)(q32;q23) and t(8;14)(q24;q32) in three cases each, and t(6;14)(p21;q32) and t(1;14)(q21;q32) in two cases each. The remaining 14q32 translocations had various t(V;14) partners or of an undetermined origin. Remarkably, the 14q32/IGH translocations were less frequent in the hyperdiploid karyotypes than the nonhyperdiploid karyotypes (17 vs. 63%). Fourteen cases showed break at 8q24/CMYC site; seven of those had Burkitt's-type translocations. Our results revealed that conventional cytogenetics remains an important tool in elucidating the complex and divers genetic anomalies of MM. Cytogenetics identifies two distinct groups of MM, hyperdiploid and nonhyperdiploid, and establishes the presence of prognostic chromosomal markers such as 13/13q, 17p, 8q24, and 16q aberrations. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc. [source] Cytogenetics of Brassica juncea×Brassica rapa hybrids and patterns of variation in the hybrid derivativesPLANT BREEDING, Issue 4 2002B. R. Choudhary Abstract Interspecific hybridization is an important tool to elucidate intergenomic relationships, transfer characters across species and develop synthetic amphidiploids, and it has been widely applied for improving Brassicas. The objective of the present study was to create genetic variability in Brassica through interspecific hybridization. Crosses between Brassica juncea (AABB, 2n= 36), and Brassica rapa (AA, 2n = 20) vars toria, yellow sarson, and brown sarson were attempted, and the hybrid derivatives were advanced to the F4 generation. Hybrids were obtained from the crosses B. juncea× toria and B. juncea× yellow sarson. The F1 plants were vigorous and intermediate to the parents in many morphological traits. The meiotic study of AAB hybrids showed 10 II + 8 I in the majority (71.8%) of cells analysed. A maximum of 12 and a minimum of seven bivalents were also observed in a few cells. The occurrence of multivalent associations (trivalents to pentavalents) at diakinesis/metaphase I and a bridge-fragment configuration at anaphase I were attributed to homoeology between A and B genomes. A high percentage of plants resembling B. juncea was observed in the F2 generation. Transgressive segregation in both directions was found for plant height, primary branches, main raceme length, siliquae on main raceme, siliqua intensity, seeds per siliqua and seed yield. There were significant differences for the 14 characters in the F4 derivatives. Moderate to high estimates of phenotypic and genotypic coefficients of variation, broad-sense heritability, and expected genetic advance were found for seed yield, 1000-seed weight, siliquae per plant, seeds per siliqua and days to flowering. Intergenomic recombination, reflected as wide variation in the hybrid progenies, permitted the selection of some useful derivatives. [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 9 2009Article first published online: 28 AUG 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 21 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array CGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 4 2009Article first published online: 30 MAR 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 20 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array cGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 3 2009Article first published online: 26 FEB 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 20 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Preimplantation Genetic Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Imaging: General; Ultrasound; MRI; 8 Maternal Serum Screening for Aneuploidy; 9 Screening for Carriers of Genetic Abnormality; 10 Molecular Cytogenetics: Metaphase Cytogenetics/FISH; Array cGH; 11 Fetal Cells in Maternal Circulation; 12 Fetal DNA/RNA in Maternal Body Fluids; 13 Fetal Therapy; 14 Psychosocial and Ethical Aspects; 15 Epidemiology and Environmental Factors; 16 Developmental and Placental Pathology; 17 Genetic Counseling. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 7 2008Article first published online: 15 JUL 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 1 2008Article first published online: 10 JAN 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 7 2007Article first published online: 2 JUL 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 10 2006Article first published online: 9 OCT 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 4 2006Article first published online: 27 MAR 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 1 2006Article first published online: 23 DEC 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 10 2004Article first published online: 25 OCT 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 4 2004Article first published online: 31 MAR 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 8 2003Article first published online: 5 AUG 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Current Awareness in prenatal diagnosisPRENATAL DIAGNOSIS, Issue 2 2003Article first published online: 28 JAN 200 In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted [source] Cytogenetics of species of Chamaecrista (Leguminosae , Caesalpinioideae) native to southern BrazilBOTANICAL JOURNAL OF THE LINNEAN SOCIETY, Issue 4 2006ELAINE BIONDO Chromosome numbers, karyotypes, meiotic behaviour and pollen analysis are presented for species of Chamaecrista Moench (Leguminosae, Caesalpinioideae, Cassieae) native to southern Brazil: C. nictitans ssp. patellaria, C. nictitans ssp. disadena, C. repens, C. rotundifolia, C. flexuosa, C. vestita and C. desvauxii. Meiotic behaviour is reported for the first time for all the taxa and was very regular; only bivalents were formed at diakinesis and metaphase I, chromosome disjunction and segregation were regular at anaphases I and II, meiotic indexes were over 99% and pollen fertility was over 92%. Pollen grains were subprolate in C. flexuosa and C. vestita and prolate,spheroidal in the other taxa. Karyotypes were symmetrical in all six species and the data are original, except for C. nictitans ssp. patellaria. Chromosome number is presented for the first time for C. repens (2n = 16) and has been confirmed for the other taxa: 2n = 14 for C. desvauxii, 2n = 32 for the tetraploid C. nictitans ssp. patellaria and C. nictitans ssp. disadena, and 2n = 16 for the other species. These two basic numbers found in the genus, x = 7 and x = 8, point to chromosome evolution by dysploidy, which has also been accompanied by polyploidy. © 2006 The Linnean Society of London, Botanical Journal of the Linnean Society, 2006, 150, 429,439. [source] The impact of cytomorphology, cytogenetics, molecular genetics, and immunophenotyping in a comprehensive diagnostic workup of myelodysplastic syndromesCANCER, Issue 19 2009Ulrike Bacher MD Abstract BACKGROUND: Because of limited reproducibility of morphologic features, the morphological categorization of initial myelodysplastic syndromes (MDS) cases remains a major task in a diagnostic setting. METHODS: To further evaluate the role of additional diagnostic methods for suspected early MDS, the authors analyzed 1965 cases with unclear cytopenia where at least cytomorphology and immunophenotyping were performed in parallel, combined with cytogenetics and molecular genetics. RESULTS: In 353 patients, both methods diagnosed malignant/nonmalignant disease other than MDS, and 557 patients had MDS-refractory anemia with excess of blasts/chronic myelomonocytic leukemia. The remaining 1055 patients (53.7%), where early MDS/reactive cytopenia had to be assumed, were categorized into 6 groups depending on cytomorphology/immunophenotyping results for or against MDS. In 659 of 1055 cases (62.4%) with suspected initial MDS, cytomorphology and immunophenotyping were concordant in the categorization of MDS/non-MDS. Cytogenetics, available in 951 of 1055 patients, revealed the highest frequency of aberrant karyotypes when both cytomorphology and immunophenotyping proposed MDS (63 of 227; 27.8%). But also in the groups where either cytomorphology or immunophenotyping showed evidence of MDS, aberrant karyotypes were found in 6% to 14% of patients. Even when both morphology and immunophenotyping showed no MDS, 11 of 208 (5.3%) had cytogenetic aberrations. RUNX1/AML1 mutation screening was positive in 15% in the latter group. NRAS, MLL -PTD, NPM1, and JAK2V617F were detected in low frequencies, confirming MDS diagnosis in the respective cases. CONCLUSIONS: This report outlines the power of a combined diagnostic approach for suspected initial cases of MDS including immunophenotyping, cytogenetics, and molecular genetics with selected markers in addition to cytomorphology. Diagnostic algorithms should be developed, and immunophenotyping should be further validated for this specific indication. Cancer 2009. © 2009 American Cancer Society. [source] Comparative genomic hybridization (CGH)-arrays pave the way for identification of novel cancer-related genesCANCER SCIENCE, Issue 7 2004Johji Inazawa Comparative genomic hybridization (CGH) has already made a significant impact on cancer Cytogenetics. However, CGH to metaphase chromosomes can provide only limited resolution at the 5,10 Mb level. To circumvent this limitation, array-based CGH has been devised. Since spotted DMAs in a CGH-array contain sequence information directly connected with the genome database, we can easily note particular biological aspects of genes that lie within regions involved in copy-number aberrations. High-density, sub-megabase arrays can reveal nonrandom chromosome copy-number aberrations responsible for neoplastic transformation that have been masked under complex karyotypes in epithelial solid tumors. High-density CGH-array therefore paves the way for identification of disease-related genetic aberrations that have not yet been detected by existing technologies, and array-based CGH technology should soon be practical for diagnosis of cancer or genetic diseases in the clinical setting. [source] | ||||||||||||||||||||||||||||||||||