Summary: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.

Top Publications

  1. Bacher U, Kern W, Alpermann T, Schnittger S, Haferlach C, Haferlach T. Prognoses of MDS subtypes RARS, RCMD and RCMD-RS are comparable but cytogenetics separates a subgroup with inferior clinical course. Leuk Res. 2012;36:826-31 pubmed publisher
    ..001). These results support to combine RCMD and RCMD-RS as performed by WHO and emphasize the prognostic power of cytogenetic criteria for these MDS subtypes. ..
  2. Figueroa D, Bass H. A historical and modern perspective on plant cytogenetics. Brief Funct Genomics. 2010;9:95-102 pubmed publisher
    Plant cytogenetics has continued to flourish and make essential contributions to genomics projects by delineating marker order, defining contig gaps and revealing genome rearrangements...
  3. Dave B, Nelson M, Sanger W. Lymphoma cytogenetics. Clin Lab Med. 2011;31:725-61, x-xi pubmed publisher
    ..Overlapping morphologic and immunophenotypic features often makes accurate diagnosis difficult. Cytogenetics helps simplify the diagnostic complexities presented in transforming and progressive lymphoid malignancies...
  4. Zatloukalová P, Hřibová E, Kubaláková M, Suchánková P, Simkova H, Adoración C, et al. Integration of genetic and physical maps of the chickpea (Cicer arietinum L.) genome using flow-sorted chromosomes. Chromosome Res. 2011;19:729-39 pubmed publisher
    ..As a result, two clones were identified localizing specifically to chromosomes E and H, for which no cytogenetic markers were yet available. ..
  5. Becker S, Thomas R, Trifonov V, Wayne R, Graphodatsky A, Breen M. Anchoring the dog to its relatives reveals new evolutionary breakpoints across 11 species of the Canidae and provides new clues for the role of B chromosomes. Chromosome Res. 2011;19:685-708 pubmed publisher
    ..We propose that the complex karyotype rearrangements associated with speciation of the Canidae reflect unstable chromosome regions described by the fragile breakage model...
  6. Sandberg A, Meloni Ehrig A. Cytogenetics and genetics of human cancer: methods and accomplishments. Cancer Genet Cytogenet. 2010;203:102-26 pubmed publisher
    ..The goals of this article are (a) to address historical and methodological aspects of cancer cytogenetics; (b) to present information on diagnostic translocations in leukemias, lymphomas, bone and soft tissue tumors, ..
  7. Md Zin R, Murch A, Charles A. Pathology, genetics and cytogenetics of Wilms' tumour. Pathology. 2011;43:302-12 pubmed publisher
    ..In this review, we will provide an overview of the pathological, genetic and cytogenetic characteristics of WT. ..
  8. Kluin P, Schuuring E. Molecular cytogenetics of lymphoma: where do we stand in 2010?. Histopathology. 2011;58:128-44 pubmed publisher
    ..Finally, we discuss briefly possible novel developments in the field of lymphoma diagnostics. ..
  9. Mrozek K, Harper D, Aplan P. Cytogenetics and molecular genetics of acute lymphoblastic leukemia. Hematol Oncol Clin North Am. 2009;23:991-1010, v pubmed publisher
    ..The article provides a review of modern molecular techniques and their application in the research on the genetics and epigenetics of ALL. ..

More Information


  1. Spakulová M, Orosová M, Mackiewicz J. Cytogenetics and chromosomes of tapeworms (Platyhelminthes, Cestoda). Adv Parasitol. 2011;74:177-230 pubmed publisher
    ..Here we review the literature from 1907 to 2010 and the current status of knowledge of the chromosomes and cytogenetics within all of the cestode orders and place it within an evolutionary perspective...
  2. Bejjani B, Shaffer L, Ballif B. The use of microarray technology for cytogenetics. Methods Mol Biol. 2010;632:125-39 pubmed publisher
    The use of microarray technology is revolutionizing the field of clinical cytogenetics. This new technology has transformed the cytogenetics laboratory by adapting techniques that have heretofore been the province of molecular geneticists...
  3. Mocker K, Holland H, Ahnert P, Schober R, Bauer M, Kirsten H, et al. Multiple meningioma with different grades of malignancy: case report with genetic analysis applying single-nucleotide polymorphism array and classical cytogenetics. Pathol Res Pract. 2011;207:67-72 pubmed publisher
    ..Taken together, we describe a very rare case of multiple meningioma with overlapping but also distinct genetic aberration patterns in two nodules of different WHO grades of malignancy. ..
  4. Oguiura N, Ferrarezzi H, Batistic R. Cytogenetics and molecular data in snakes: a phylogenetic approach. Cytogenet Genome Res. 2009;127:128-42 pubmed publisher
  5. Blokx W, van Dijk M, Ruiter D. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects. Histopathology. 2010;56:121-32 pubmed publisher
    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions...
  6. Put N, Konings P, Rack K, Jamar M, Van Roy N, Libouton J, et al. Improved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin-2 stimulation: A Belgian multicentric study. Genes Chromosomes Cancer. 2009;48:843-53 pubmed publisher
    ..However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques.
  7. Manola K. Cytogenetics of pediatric acute myeloid leukemia. Eur J Haematol. 2009;83:391-405 pubmed publisher discusses the association of specific chromosome rearrangements with prenatal exposure to carcinogenic agents or therapeutic agents and highlights the ongoing and future research on pediatric AML in the evolving field of Cytogenetics.
  8. Gregory T, Wald D, Chen Y, Vermaat J, Xiong Y, Tse W. Molecular prognostic markers for adult acute myeloid leukemia with normal cytogenetics. J Hematol Oncol. 2009;2:23 pubmed publisher
    ..Further prospective studies are needed to confirm if poorer risk NC-AML patients have improved clinical outcomes after more aggressive therapy. ..
  9. Kern W, Dicker F, Schnittger S, Haferlach C, Haferlach T. Correlation of flow cytometrically determined expression of ZAP-70 using the SBZAP antibody with IgVH mutation status and cytogenetics in 1,229 patients with chronic lymphocytic leukemia. Cytometry B Clin Cytom. 2009;76:385-93 pubmed publisher
    ..of ZAP-70 expression using SBZAP and applying MFI ratio T-cells:B-cells results in significant relations to IgVH mutation status, cytogenetics, and outcome and should be further analyzed and considered for routine application in CLL.
  10. Zhang Y, Zhang Y, Gu Y, Guan F, Li S, Xie J, et al. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH. Clin Genet. 2009;75:133-40 pubmed publisher
    ..In addition, arrayCGH can detect submicroscopic chromosomal anomalies and gene dosage alterations. ..
  11. Vital A, Tabernero M, Castrillo A, Rebelo O, Tão H, Gomes F, et al. Gene expression profiles of human glioblastomas are associated with both tumor cytogenetics and histopathology. Neuro Oncol. 2010;12:991-1003 pubmed publisher gliomas, few studies have investigated the association between the gene expression profiles (GEP) and both cytogenetics and histopathology of gliomas. Here, we analyzed the GEP (U133Plus2...
  12. Roh M, Dal Cin P, Silverman S, Cibas E. The application of cytogenetics and fluorescence in situ hybridization to fine-needle aspiration in the diagnosis and subclassification of renal neoplasms. Cancer Cytopathol. 2010;118:137-45 pubmed publisher
    ..This study summarizes our experience with the application of conventional cytogenetics and fluorescence in situ hybridization (FISH) to renal FNA specimens...
  13. Braoudaki M, Tzortzatou Stathopoulou F, Anagnostopoulos A, Papathanassiou C, Vougas K, Karamolegou K, et al. Proteomic analysis of childhood de novo acute myeloid leukemia and myelodysplastic syndrome/AML: correlation to molecular and cytogenetic analyses. Amino Acids. 2011;40:943-51 pubmed publisher
    ..The obtained data showed that vitamin D and gelsolin played contradicting roles in contributing and restraining leukemogenesis, while MOES, EZRI and AIFM1 could be considered as biomarkers for AML. ..
  14. Sawyer J. The prognostic significance of cytogenetics and molecular profiling in multiple myeloma. Cancer Genet. 2011;204:3-12 pubmed publisher
    ..criteria that are used to help stratify patients into prognostic groups based on the findings of conventional cytogenetics and fluorescence in situ hybridization (FISH)...
  15. Drieschner N, Rippe V, Laabs A, Dittberner L, Nimzyk R, Junker K, et al. Interphase fluorescence in situ hybridization analysis detects a much higher rate of thyroid tumors with clonal cytogenetic deviations of the main cytogenetic subgroups than conventional cytogenetics. Cancer Genet. 2011;204:366-74 pubmed publisher
    ..4 or 2p21, can be distinguished by conventional cytogenetics (CC). As a rule, these aberrations seem to be mutually exclusive...
  16. Książkiewicz M, Wyrwa K, Szczepaniak A, Rychel S, Majcherkiewicz K, Przysiecka Ł, et al. Comparative genomics of Lupinus angustifolius gene-rich regions: BAC library exploration, genetic mapping and cytogenetics. BMC Genomics. 2013;14:79 pubmed publisher
    ..These findings will be valuable to the forthcoming sequencing of the lupin genome. ..
  17. Sher T, Miller K, Lawrence D, Whitworth A, Hernandez Ilizaliturri F, Czuczman M, et al. Efficacy of lenalidomide in patients with chronic lymphocytic leukemia with high-risk cytogenetics. Leuk Lymphoma. 2010;51:85-8 pubmed publisher
    Patients with chronic lymphocytic lymphoma (CLL) with high-risk cytogenetics [del(11q)(q22.3) or del(17p)(p13.1)] have limited therapeutic options and their prognosis remains poor...
  18. Sudoyo A, Hardi F. Cytogenetics in solid tumors: lessons from the Philadelphia Chromosome. Acta Med Indones. 2011;43:68-73 pubmed
    ..Starting from this point, cytogenetics as the study of chromosomes has become a valuable tool in the assessment of cancer - as an aid in diagnosis, ..
  19. Bonifácio E, Fonsêca A, Almeida C, dos Santos K, Pedrosa Harand A. Comparative cytogenetic mapping between the lima bean (Phaseolus lunatus L.) and the common bean (P. vulgaris L.). Theor Appl Genet. 2012;124:1513-20 pubmed publisher
    ..The low number of structural rearrangements reflects the karyotypic stability of the genus. ..
  20. Dal Cin P, Qian X, Cibas E. The marriage of cytology and cytogenetics. Cancer Cytopathol. 2013;121:279-90 pubmed publisher
    The past 20 years have witnessed extraordinary advances in the field of cytogenetics, with the discovery that a multitude of neoplasms is characterized by identifiable chromosomal changes...
  21. Roberts P, Burchill S, Brownhill S, Cullinane C, Johnston C, Griffiths M, et al. Ploidy and karyotype complexity are powerful prognostic indicators in the Ewing's sarcoma family of tumors: a study by the United Kingdom Cancer Cytogenetics and the Children's Cancer and Leukaemia Group. Genes Chromosomes Cancer. 2008;47:207-20 pubmed
    ..These data demonstrate the continued value of cytogenetics as a genome-wide screen in ESFT and illustrates the potential importance of secondary chromosome changes for ..
  22. Baudis M. Online database and bioinformatics toolbox to support data mining in cancer cytogenetics. Biotechniques. 2006;40:269-70, 272 pubmed
  23. Garcia Sagredo J. Fifty years of cytogenetics: a parallel view of the evolution of cytogenetics and genotoxicology. Biochim Biophys Acta. 2008;1779:363-75 pubmed publisher
    A parallelism exists between human cytogenetics and cytogenetic toxicology. The breakthroughs, mostly coming from and used in clinical genetics, are widely used in genetic toxicology...
  24. Iannuzzi L, Di Berardino D. Tools of the trade: diagnostics and research in domestic animal cytogenetics. J Appl Genet. 2008;49:357-66 pubmed publisher
    ..includes historical information, basic principles for the given technique, its primary use in veterinary cytogenetics, and major limitations. Supplementary material (protocols and chemicals used) are available on our website...
  25. Gaidzik V, Dohner K. Prognostic implications of gene mutations in acute myeloid leukemia with normal cytogenetics. Semin Oncol. 2008;35:346-55 pubmed publisher
    ..Furthermore, these mutant molecules represent potential targets for molecular therapies. ..
  26. Huang S, Yao M, Tang J, Tsay W, Lee F, Liu M, et al. Clinical significance of cytogenetics and interphase fluorescence in situ hybridization analysis in newly diagnosed multiple myeloma in Taiwan. Ann Oncol. 2005;16:1530-8 pubmed
    ..We analyzed CA by conventional cytogenetics (CG) and/or fluorescence in situ hybridization (FISH), assessed their clinical significance in 150 Chinese MM ..
  27. Dobigny G, Ducroz J, Robinson T, Volobouev V. Cytogenetics and cladistics. Syst Biol. 2004;53:470-84 pubmed
  28. Breen M. Canine cytogenetics--from band to basepair. Cytogenet Genome Res. 2008;120:50-60 pubmed publisher
    ..Canine cytogenetics has advanced significantly over the past 10 years, spurred on largely by the surge of interest in the dog as a ..
  29. Freeman J, Adeniyi A, Banerjee R, Dallaire S, Maguire S, Chi J, et al. Definition of the zebrafish genome using flow cytometry and cytogenetic mapping. BMC Genomics. 2007;8:195 pubmed
    ..An accurately annotated zebrafish reference genome serves as a valuable resource for investigating the molecular basis of human diseases using zebrafish mutant models. ..
  30. Mao X, Nie W, Wang J, Su W, Feng Q, Wang Y, et al. Comparative cytogenetics of bats (Chiroptera): the prevalence of Robertsonian translocations limits the power of chromosomal characters in resolving interfamily phylogenetic relationships. Chromosome Res. 2008;16:155-70 pubmed publisher
    ..Both analyses clearly indicate the prevalence of homoplasic events that reduce the reliability of chromosomal characters for resolving interfamily relationships in bats. ..
  31. Garzon R, Volinia S, Liu C, Fernandez Cymering C, Palumbo T, Pichiorri F, et al. MicroRNA signatures associated with cytogenetics and prognosis in acute myeloid leukemia. Blood. 2008;111:3183-9 pubmed publisher
    ..03; and miR-199a, P = .001, Cox regression). In conclusion, miRNA expression in AML is closely associated with cytogenetics and FLT3-ITD mutations. A small subset of miRNAs is correlated with survival.
  32. Pickard B, Millar J, Porteous D, Muir W, Blackwood D. Cytogenetics and gene discovery in psychiatric disorders. Pharmacogenomics J. 2005;5:81-8 pubmed
    ..Cytogenetic events may provide important insights into neurochemical pathways and cellular processes critical for the development of complex psychiatric phenotypes in the population at large. ..
  33. Speicher M, Carter N. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet. 2005;6:782-92 pubmed
    Exciting advances in fluorescence in situ hybridization and array-based techniques are changing the nature of cytogenetics, in both basic research and molecular diagnostics...
  34. Aldrich M, Zhang L, Wiemels J, Ma X, Loh M, Metayer C, et al. Cytogenetics of Hispanic and White children with acute lymphoblastic leukemia in California. Cancer Epidemiol Biomarkers Prev. 2006;15:578-81 pubmed
    ..We characterized the cytogenetics of 543 childhood leukemia patients (0-14 years of age) enrolled in the Northern California Childhood Leukemia ..
  35. Baldus C, Mrozek K, Marcucci G, Bloomfield C. Clinical outcome of de novo acute myeloid leukaemia patients with normal cytogenetics is affected by molecular genetic alterations: a concise review. Br J Haematol. 2007;137:387-400 pubmed
    Normal cytogenetics are detected pretreatment in approximately 45% of patients with de novo acute myeloid leukaemia (AML); thus this constitutes the single largest cytogenetic group of AML...
  36. Haferlach T, Bacher U, Kern W, Schnittger S, Haferlach C. The diagnosis of BCR/ABL-negative chronic myeloproliferative diseases (CMPD): a comprehensive approach based on morphology, cytogenetics, and molecular markers. Ann Hematol. 2008;87:1-10 pubmed
    ..Therefore, today, a multimodal diagnostic approach combining cytomorphology, cytogenetics, and individual molecular methods is needed in BCR/ABL-negative CMPD...
  37. Carless M, Griffiths L. Cytogenetics of melanoma and nonmelanoma skin cancer. Adv Exp Med Biol. 2008;624:227-40 pubmed publisher
    ..This review provides a comprehensive summary of the pertinent cytogenetic aberrations associated with a variety of melanoma and nonmelanoma skin cancers. ..
  38. Jacobs G, Dechyeva D, Wenke T, Weber B, Schmidt T. A BAC library of Beta vulgaris L. for the targeted isolation of centromeric DNA and molecular cytogenetics of Beta species. Genetica. 2009;135:157-67 pubmed publisher
    ..Therefore, the PAT2 BAC library provides a useful tool for the characterization of Beta centromeres and a valuable resource for sugar beet genome analysis...
  39. Salman M, Jhanwar S, Ostrer H. Will the new cytogenetics replace the old cytogenetics?. Clin Genet. 2004;66:265-75 pubmed
    ..However, as with any new technology, it needs to be validated with regard to its performance in various applications (e.g. clinical genetic testing and cancer applications), comparative cost, and the data interpretation. ..
  40. Werbowetski Ogilvie T, Bosse M, Stewart M, Schnerch A, Ramos Mejia V, Rouleau A, et al. Characterization of human embryonic stem cells with features of neoplastic progression. Nat Biotechnol. 2009;27:91-7 pubmed publisher
    ..1-11.2 in v-hESC-1 and a deletion at 5q34a-5q34b;5q3 and a mosaic gain of chromosome 12 in v-hESC-2. These results emphasize the need for functional characterization to distinguish partially transformed and normal hES cells. ..
  41. Smeets D. Historical prospective of human cytogenetics: from microscope to microarray. Clin Biochem. 2004;37:439-46 pubmed
    After the fundamental discovery in 1956 that normal human cells contain 46 chromosomes, clinical cytogenetics was born and studies into the relation of chromosomal defects and disease could begin...
  42. Pellestor F, Andreo B, Anahory T, Dechaud H, Hedon B, Hamamah S. [The cytogenetics of human oocytes: 40 years of progress]. Gynecol Obstet Fertil. 2005;33:283-92 pubmed
    ..The effect of advanced maternal age on the incidence of aneuploidy in human oocytes has also been clearly evidenced by recent reports based on large sample of oocytes or polar bodies. ..
  43. Hutchings Hoffmann M, Wirenfeldt Klausen T, Hasle H, Schmiegelow K, Brondum Nielsen K, Johnsen H. Multiplex reverse transcription polymerase chain reaction screening in acute myeloid leukemia detects cytogenetically unrevealed abnormalities of prognostic significance. Haematologica. 2005;90:984-6 pubmed
    ..In five patients, a cytogenetically unrevealed fusion gene of prognostic importance was detected, while the assay failed to detect one case of t(15;17). ..
  44. Dorritie K, Montagna C, Difilippantonio M, Ried T. Advanced molecular cytogenetics in human and mouse. Expert Rev Mol Diagn. 2004;4:663-76 pubmed
    ..and more recently array comparative genomic hybridization, represent advancements in the field of molecular cytogenetics. The application of these techniques for the analysis of specimens from humans, or mouse models of human ..
  45. Chatzimeletiou K, Morrison E, Panagiotidis Y, Prapas N, Prapas Y, Rutherford A, et al. Comparison of effects of zona drilling by non-contact infrared laser or acid Tyrode's on the development of human biopsied embryos as revealed by blastomere viability, cytoskeletal analysis and molecular cytogenetics. Reprod Biomed Online. 2005;11:697-710 pubmed
    ..Acid Tyrode's drilling can also cause damage, and tended to retard blastocyst development. ..
  46. Bourque G, Tesler G, Pevzner P. The convergence of cytogenetics and rearrangement-based models for ancestral genome reconstruction. Genome Res. 2006;16:311-3 pubmed
  47. Tallman M, Dewald G, Gandham S, Logan B, Keating A, Lazarus H, et al. Impact of cytogenetics on outcome of matched unrelated donor hematopoietic stem cell transplantation for acute myeloid leukemia in first or second complete remission. Blood. 2007;110:409-17 pubmed
    ..b>Cytogenetics had little influence on the overall outcome for patients in first CR...
  48. Whitman S, Ruppert A, Radmacher M, Mrozek K, Paschka P, Langer C, et al. FLT3 D835/I836 mutations are associated with poor disease-free survival and a distinct gene-expression signature among younger adults with de novo cytogenetically normal acute myeloid leukemia lacking FLT3 internal tandem duplications. Blood. 2008;111:1552-9 pubmed
  49. Afifi H, Zaki M, El Gerzawy A, Kayed H. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics. Genet Couns. 2008;19:47-58 pubmed
    ..We report on the first male (6 years old) and female (3 years old) sibs with clinical and cytogenetics characterization of Jacobsen syndrome. Their karyotypes showed deletion 11q23.3-qter...
  50. Billing V, Mertens F, Domanski H, Rydholm A. Deep-seated ordinary and atypical lipomas: histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wall. J Bone Joint Surg Br. 2008;90:929-33 pubmed publisher
    ..We reviewed 215 deep-seated lipomas of the extremities and trunk wall with reference to histology, cytogenetics, clinical features and local recurrence...
  51. Mrozek K, Carroll A, Maharry K, Rao K, Patil S, Pettenati M, et al. Central review of cytogenetics is necessary for cooperative group correlative and clinical studies of adult acute leukemia: the Cancer and Leukemia Group B experience. Int J Oncol. 2008;33:239-44 pubmed
    The Cancer and Leukemia Group B has performed central review of karyotypes submitted by institutional cytogenetics laboratories from patients with acute myeloid (AML) and acute lymphoblastic (ALL) leukemia since 1986...
  52. Grishanin A, Rasch E, Dodson S, Wyngaard G. Genetic architecture of the cryptic species complex of Acanthocyclops vernalis (Crustacea: Copepoda). II. Crossbreeding experiments, cytogenetics, and a model of chromosomal evolution. Evolution. 2006;60:247-56 pubmed
    ..Hence, some of the criteria traditionally used to recognize species boundaries in animals (morphology, DNA content, chromosome number) may not apply to this species complex. ..
  53. Armand P, Kim H, DeAngelo D, Ho V, Cutler C, Stone R, et al. Impact of cytogenetics on outcome of de novo and therapy-related AML and MDS after allogeneic transplantation. Biol Blood Marrow Transplant. 2007;13:655-64 pubmed
    b>Cytogenetics has an important impact on the prognosis of patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) for acute myelogenous leukemia (AML) or myelodysplastic syndromes (MDS)...