cytogenetic analysis


Summary: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.

Top Publications

  1. Svartman M. Chromosome evolution in Xenarthra: new insights from an ancient group. Cytogenet Genome Res. 2012;137:130-43 pubmed publisher
  2. Merico V, Giménez M, Vasco C, Zuccotti M, Searle J, Hauffe H, et al. Chromosomal speciation in mice: a cytogenetic analysis of recombination. Chromosome Res. 2013;21:523-33 pubmed publisher
    ..The low frequency of proximal recombination in pentavalents of CHPO-IUVA hybrids may promote reproductive isolation between the CHPO and IUVA races, when coupled with reduced hybrid unfitness. ..
  3. Estey E. Acute myeloid leukemia: 2013 update on risk-stratification and management. Am J Hematol. 2013;88:318-27 pubmed publisher
    ..The diagnosis of AML essentially is made as it was in 2012. Thus this review will emphasize new developments in risk stratification and treatment using as references many papers published in 2012. ..
  4. Jiao X, Qin C, Li J, Qin Y, Gao X, Zhang B, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27:2201-7 pubmed publisher
    ..In one of the largest samples of women with POF reported from any population, the prevalence of X-structural abnormalities, X-autosome translocations and X aneuploidy confirms the essential role X chromosomal abnormalities play in POF. ..
  5. Capozzi O, Carbone L, Stanyon R, Marra A, Yang F, Whelan C, et al. A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons. Genome Res. 2012;22:2520-8 pubmed publisher
    ..The precise definition of synteny block boundaries and orientation, chromosomal fusions, and centromere repositioning events presented here will facilitate genome sequence assembly for these close relatives of humans...
  6. Mendler J, Maharry K, Radmacher M, Mrozek K, Becker H, Metzeler K, et al. RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures. J Clin Oncol. 2012;30:3109-18 pubmed publisher
    ..RUNX1-mutated blasts have molecular features of primitive hematopoietic and lymphoid progenitors, potentially leading to novel therapeutic approaches. ..
  7. Bruschi D, Busin C, Siqueira S, Recco Pimentel S. Cytogenetic analysis of two species in the Phyllomedusa hypochondrialis group (Anura, Hylidae). Hereditas. 2012;149:34-40 pubmed publisher
    ..rohdei. Chromosomal data from this study indicate karyotypic homeology between the two groups of P. hypochondrialis species and suggest the existence of more than one taxon under the P. rohdei name...
  8. Eldai H, Periyasamy S, Al Qarni S, Al Rodayyan M, Muhammed Mustafa S, Deeb A, et al. Novel genes associated with colorectal cancer are revealed by high resolution cytogenetic analysis in a patient specific manner. PLoS ONE. 2013;8:e76251 pubmed publisher
    ..Our analysis shows patient specific CRC manifestations at the genomic level and that these different events affect individual CRC patients differently. ..
  9. Gruber S, Silva A, Haddad C, Kasahara S. Cytogenetic analysis of Phyllomedusa distincta Lutz, 1950 (2n?=?2x?=?26), P. tetraploidea Pombal and Haddad, 1992 (2n?=?4x?=?52), and their natural triploid hybrids (2n?=?3x?=?39) (Anura, Hylidae, Phyllomedusinae). BMC Genet. 2013;14:75 pubmed publisher
    ..We analyse the chromosomes of P. distincta, P. tetraploidea, and their triploid hybrids, to enlighten the origin of polyploidy and to obtain some evidence on diploidisation of tetraploid karyotype...

More Information


  1. Kwiatek M, Wisniewska H, Apolinarska B. Cytogenetic analysis of Aegilops chromosomes, potentially usable in triticale (X Triticosecale Witt.) breeding. J Appl Genet. 2013;54:147-55 pubmed publisher
    ..An importance of the cytogenetic markers in plant breeding and their possible role in chromosome structure, function and evolution is discussed. ..
  2. Falcone G, Mazzola A, Michelini F, Bossi G, Censi F, Biferi M, et al. Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence. Aging Cell. 2013;12:312-5 pubmed publisher
  3. Wai C, Moore P, Paull R, Ming R, Yu Q. An integrated cytogenetic and physical map reveals unevenly distributed recombination spots along the papaya sex chromosomes. Chromosome Res. 2012;20:753-67 pubmed publisher
    ..This cytogenetic map provides essential information for evolutionary study of sex chromosomes in Caricaceae and will facilitate the analysis of papaya sex chromosomes...
  4. de Oliveira S, de Moura R, Barros e Silva A, de Souza M. Cytogenetic analysis of two Coprophanaeus species (Scarabaeidae) revealing wide constitutive heterochromatin variability and the largest number of 45S rDNA sites among Coleoptera. Micron. 2010;41:960-5 pubmed publisher
    ..M.) ensifer. These results contribute to a better understanding of chromosome evolution in the genus Coprophanaeus, and demonstrate a wide CH variability and the largest number of ribosomal sites among Coleoptera. ..
  5. Mandava S, Koppaka N, Bhatia V, Das B. Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population. Genet Test Mol Biomarkers. 2010;14:499-504 pubmed publisher
    ..b>Cytogenetic analysis of peripheral blood lymphocyte cultures was performed at 550-band level using the modified standard ..
  6. Ren Y, Zhang Z, Liu J, Staub J, Han Y, Cheng Z, et al. An integrated genetic and cytogenetic map of the cucumber genome. PLoS ONE. 2009;4:e5795 pubmed publisher
    ..This map will facilitate whole genome sequencing, positional cloning, and molecular breeding in cucumber, and enable the integration of knowledge of gene and trait in cucurbits...
  7. MacLeod R, Kaufmann M, Drexler H. Cytogenetic analysis of cancer cell lines. Methods Mol Biol. 2011;731:57-78 pubmed publisher
    ..Thus, evidence-based protocols are described for hypotonic harvesting, rapid G-banding, and FISH and SKY analysis of cell cultures to allow troubleshooting and fine-tuning to suit the requirements of individual cell lines. ..
  8. Kroneis T, Geigl J, El Heliebi A, Auer M, Ulz P, Schwarzbraun T, et al. Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification. Clin Chem. 2011;57:1032-41 pubmed publisher
    ..Furthermore, the possibility to perform mCGH with amplified DNA from single cells offers a perspective for the analysis of nonmicrochimeric rare cells exhibiting genomic alterations, such as circulating tumor cells. ..
  9. Bacher U, Haferlach C, Alpermann T, Kern W, Schnittger S, Haferlach T. Comparison of genetic and clinical aspects in patients with acute myeloid leukemia and myelodysplastic syndromes all with more than 50% of bone marrow erythropoietic cells. Haematologica. 2011;96:1284-92 pubmed publisher
  10. Maciejewski J, Tiu R, O Keefe C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br J Haematol. 2009;146:479-88 pubmed publisher
    ..SNP-A can complement metaphase karyotyping and will probably play an important role in clinical cytogenetic diagnostics. ..
  11. Huh J, Tiu R, Gondek L, O Keefe C, Jasek M, Makishima H, et al. Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome-wide single nucleotide polymorphism array analysis. Genes Chromosomes Cancer. 2010;49:390-9 pubmed publisher
    ..Our data suggest that SNP-A is useful for the detection of cryptic aberrations of chromosome 20q and allows for a more precise characterization of complex karyotypes. Furthermore, SNP-A allowed definition of a CDR on 20q. ..
  12. Islam Faridi M, Nelson C, DiFazio S, Gunter L, Tuskan G. Cytogenetic analysis of Populus trichocarpa--ribosomal DNA, telomere repeat sequence, and marker-selected BACs. Cytogenet Genome Res. 2009;125:74-80 pubmed publisher
    ..BAC-FISH will be useful for delineating each of the Populus trichocarpa chromosomes and improving the sequence assembly of this model angiosperm tree species...
  13. Ainsbury E, Lloyd D. Dose estimation software for radiation biodosimetry. Health Phys. 2010;98:290-5 pubmed publisher
    b>Cytogenetic analysis of chromosome damage in blood lymphocytes is widely used for radiation biodosimetry...
  14. Woo K, Kim K, Kim K, Kim S, Park J, Shaffer L, et al. Deletions of chromosome arms 7p and 7q in adult acute myeloid leukemia: a marker chromosome confirmed by array comparative genomic hybridization. Cancer Genet Cytogenet. 2009;194:71-4 pubmed publisher
    ..There is evidence that the outcome is better when -7 or del(7q) occurs in patients with a simple karyotype, compared with a complex karyotype. ..
  15. Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, et al. Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature. J Obstet Gynaecol Res. 2010;36:435-40 pubmed publisher
    ..This case represents one of the few cases of prenatally diagnosed full monosomy 21 confirmed only by CVS, in which the parental origin of the single chromosome was determined. ..
  16. Antonelli A, Arrighi N, Tardanico R, Balzarini P, Zanotelli T, Corti S, et al. Prognostic value of cytogenetic analysis in clear cell renal carcinoma: a study on 131 patients with long-term follow-up. Anticancer Res. 2010;30:4705-9 pubmed
    b>Cytogenetic analysis has a role in diagnosis of conventional renal cell carcinoma, but its role in prognosis is still matter of debate. This study reviews the Authors' experience in cytogenetic analysis of clear cell renal carcinoma...
  17. Hedan B, Thomas R, Motsinger Reif A, Abadie J, Andre C, Cullen J, et al. Molecular cytogenetic characterization of canine histiocytic sarcoma: A spontaneous model for human histiocytic cancer identifies deletion of tumor suppressor genes and highlights influence of genetic background on tumor behavior. BMC Cancer. 2011;11:201 pubmed publisher
  18. Metzeler K, Maharry K, Radmacher M, Mrozek K, Margeson D, Becker H, et al. TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol. 2011;29:1373-81 pubmed publisher
    ..Our data suggest that these patients may be candidates for alternative therapies. ..
  19. Rolnik D, Carvalho M, Catelani A, Pinto A, Lira J, Kusagari N, et al. [Cytogenetic analysis of material from spontaneous abortion]. Rev Assoc Med Bras (1992). 2010;56:681-3 pubmed
    ..Cytogenetic alterations are an important cause of pregnancy loss and their detection helps the genetic counseling to the couple. Trisomy 16 is the most often found change. ..
  20. Gorunova L, Vult von Steyern F, Storlazzi C, Bjerkehagen B, Follerås G, Heim S, et al. Cytogenetic analysis of 101 giant cell tumors of bone: nonrandom patterns of telomeric associations and other structural aberrations. Genes Chromosomes Cancer. 2009;48:583-602 pubmed publisher
    ..We performed cytogenetic analysis on 101 GCTB from 92 patients. Karyotypes were obtained from 95 tumors, 47 of which had clonal aberrations...
  21. Valente G, Mazzuchelli J, Ferreira I, Poletto A, Fantinatti B, Martins C. Cytogenetic mapping of the retroelements Rex1, Rex3 and Rex6 among cichlid fish: new insights on the chromosomal distribution of transposable elements. Cytogenet Genome Res. 2011;133:34-42 pubmed publisher
  22. Fragouli E, Alfarawati S, Daphnis D, Goodall N, Mania A, Griffiths T, et al. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum Reprod. 2011;26:480-90 pubmed publisher
    ..However, most mosaic blastocysts contained no normal cells. Hence, CGH or aCGH TE analysis is an accurate aneuploidy detection tool and may assist in identifying viable euploid embryos with higher implantation potential. ..
  23. Targino Valente G, Henrique Schneider C, Claudia Gross M, Feldberg E, Martins C. Comparative cytogenetics of cichlid fishes through genomic in-situ hybridization (GISH) with emphasis on Oreochromis niloticus. Chromosome Res. 2009;17:791-9 pubmed publisher
    ..niloticus resulted from chromosome rearrangement or accumulation caused by recombination suppression during the evolutionary history of the tilapiines. ..
  24. Zuo Z, Polski J, Kasyan A, Medeiros L. Acute erythroid leukemia. Arch Pathol Lab Med. 2010;134:1261-70 pubmed publisher
    ..Molecular studies, preferably using high-throughput methods, are needed for a better understanding of the pathogenesis of AEL, and for developing diagnostic and prognostic markers. ..
  25. Vinnikov V, Ainsbury E, Maznyk N, Lloyd D, Rothkamm K. Limitations associated with analysis of cytogenetic data for biological dosimetry. Radiat Res. 2010;174:403-14 pubmed publisher
    ..This will allow the investigator to take a probabilistic approach to analysis of cytogenetic data, which can be considered highly appropriate for biological dose estimation. ..
  26. Xiong Z, Kim J, Pires J. Integration of genetic, physical, and cytogenetic maps for Brassica rapa chromosome A7. Cytogenet Genome Res. 2010;129:190-8 pubmed publisher
    ..napus to demonstrate that this approach can facilitate studies of genome evolution by integrating the genetic, physical, and cytogenetic maps among closely related species of Brassica...
  27. Grimwade D, Hills R, Moorman A, Walker H, Chatters S, Goldstone A, et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116:354-65 pubmed publisher
    ..This study is registered at as ISRCTN55678797 and ISRCTN17161961...
  28. Krylov V, Kubickova S, Rubes J, Macha J, Tlapakova T, Seifertova E, et al. Preparation of Xenopus tropicalis whole chromosome painting probes using laser microdissection and reconstruction of X. laevis tetraploid karyotype by Zoo-FISH. Chromosome Res. 2010;18:431-9 pubmed publisher
    ..In addition, the observed translocation events could explain the origin of individuals with 18 chromosomes in diploid karyotypes, probably extinct after the genesis of the allotetraploid X. laevis (2n = 36). ..
  29. Teixeira M, Heim S. Cytogenetic analysis of tumor clonality. Adv Cancer Res. 2011;112:127-49 pubmed publisher
  30. Leclerc Mercier S, Pedeutour F, Fabas T, Glorion C, Brousse N, Fraitag S. Plexiform fibrohistiocytic tumor with molecular and cytogenetic analysis. Pediatr Dermatol. 2011;28:26-9 pubmed publisher
    ..b>Cytogenetic analysis revealed a 46,X,del(X)(q13)[3]/46,XX[23] karyotype...
  31. Koutsimpelas D, Brieger J, Heinrich U, Torzewski M, Sommer C, Mann W. Cytogenetic analysis of a malignant triton tumour by comparative genomic hybridization (CGH) and review of the literature. Eur Arch Otorhinolaryngol. 2011;268:1391-6 pubmed publisher
    ..Comparing our results with those of previous studies, we found evidence for recurrent genomic aberrations at the chromosomes 1, 16, 17, 19, and 22 suggesting the involvement of several oncogenes in the genesis of MTT. ..
  32. Kamiri M, Stift M, Srairi I, Costantino G, El Moussadik A, Hmyene A, et al. Evidence for non-disomic inheritance in a Citrus interspecific tetraploid somatic hybrid between C. reticulata and C. limon using SSR markers and cytogenetic analysis. Plant Cell Rep. 2011;30:1415-25 pubmed publisher
    ..b>Cytogenetic analysis of meiosis in the somatic hybrid revealed 11% tetravalents and 76% bivalents...
  33. Schwind S, Marcucci G, Maharry K, Radmacher M, Mrozek K, Holland K, et al. BAALC and ERG expression levels are associated with outcome and distinct gene and microRNA expression profiles in older patients with de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. Blood. 2010;116:5660-9 pubmed publisher
  34. Balkan M, Akbas H, Isi H, Oral D, Turkyilmaz A, Kalkanli S, et al. Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res. 2010;9:1094-103 pubmed publisher
    ..The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the ..
  35. Dunlap J, Magenis R, Davis C, Himoe E, Mansoor A. Cytogenetic analysis of a primary bone angiosarcoma. Cancer Genet Cytogenet. 2009;194:1-3 pubmed publisher
  36. Cheung K, Delaney A, Ben Neriah S, Schein J, Lee T, Shah S, et al. High resolution analysis of follicular lymphoma genomes reveals somatic recurrent sites of copy-neutral loss of heterozygosity and copy number alterations that target single genes. Genes Chromosomes Cancer. 2010;49:669-81 pubmed publisher
  37. Santos F, Faderl S, Garcia Manero G, Koller C, Beran M, O BRIEN S, et al. Adult acute erythroleukemia: an analysis of 91 patients treated at a single institution. Leukemia. 2009;23:2275-80 pubmed publisher
    ..The diagnosis of AML-M6 does not impart by itself a worse prognosis, and treatment decisions on this disease should be guided by well known AML prognostic factors. ..
  38. Kapoor P, Fonseca R, Rajkumar S, Sinha S, Gertz M, Stewart A, et al. Evidence for cytogenetic and fluorescence in situ hybridization risk stratification of newly diagnosed multiple myeloma in the era of novel therapie. Mayo Clin Proc. 2010;85:532-7 pubmed publisher
    ..This study validates the high-risk features defined by FISH and CG in the Mayo risk-stratification model for patients with MM predominantly treated with novel therapies based on immunomodulatory agents. ..
  39. Fonseca R, Bergsagel P, Drach J, Shaughnessy J, Gutierrez N, Stewart A, et al. International Myeloma Working Group molecular classification of multiple myeloma: spotlight review. Leukemia. 2009;23:2210-21 pubmed publisher
    ..This group proposes that genetic testing needs to be incorporated into daily clinical practice and also as an essential component of all ongoing and future clinical trials. ..
  40. Ohmido N, Ishimaru A, Kato S, Sato S, Tabata S, Fukui K. Integration of cytogenetic and genetic linkage maps of Lotus japonicus, a model plant for legumes. Chromosome Res. 2010;18:287-99 pubmed publisher
    ..japonicus chromosomes is due to the heterochromatin. ..
  41. Kaminsky E, Kaul V, Paschall J, Church D, Bunke B, Kunig D, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13:777-84 pubmed publisher
    ..This data will provide an evidence-based guide to clinicians across many disciplines involved in the diagnosis, management, and care of these patients and their families. ..
  42. Sharma P, Kumar L, Mohanty S, Kochupillai V. Response to Imatinib mesylate in chronic myeloid leukemia patients with variant BCR-ABL fusion transcripts. Ann Hematol. 2010;89:241-7 pubmed publisher
    ..340 x 10(9)/L, p = 0.712)-were not significantly different in the b3a2 vs. b2a2 transcripts groups. Our preliminary findings suggest that CML patients with b2a2 BCR-ABL transcript might have higher CGRs to Imatinib mesylate (Gleevec). ..
  43. Martinez M, Mendez C, Ferro J, Nicolás M, Serra V, Landeras J. Cytogenetic analysis of early nonviable pregnancies after assisted reproduction treatment. Fertil Steril. 2010;93:289-92 pubmed publisher
  44. Cabral de Mello D, Moura R, Carvalho R, Souza M. Cytogenetic analysis of two related Deltochilum (Coleoptera, Scarabaeidae) species: Diploid number reduction, extensive heterochromatin addition and differentiation. Micron. 2010;41:112-7 pubmed publisher
  45. Fonsêca A, Ferreira J, dos Santos T, Mosiolek M, Bellucci E, Kami J, et al. Cytogenetic map of common bean (Phaseolus vulgaris L.). Chromosome Res. 2010;18:487-502 pubmed publisher
    ..Altogether, the results indicate that around half of the common bean genome is heterochromatic and that genes and repetitive sequences are intermingled in the euchromatin and heterochromatin of the species. ..
  46. Mazloumi S, Madhumathi D, Appaji L, Prasannakumari -. Combined study of cytogenetics and fluorescence in situ hybridization (FISH) analysis in childhood acute lymphoblastic leukemia (ALL) in a tertiary cancer centre in South India. Asian Pac J Cancer Prev. 2012;13:3825-7 pubmed
  47. Alevi K, Mendonça P, Pereira N, Fernandes A, da Rosa J, de Azeredo Oliveira M. Analysis of spermiogenesis like a tool in the study of the triatomines of the Brasiliensis subcomplex. C R Biol. 2013;336:46-50 pubmed publisher
    ..This structure, which helps in the locomotion of the sperm, is hardly observed in cytogenetic analysis, especially throughout spermiogenesis...
  48. 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
    ..The MIB-1 labeling index was 19.7% in the highest spot. Cytogenetic analysis exhibited a complex karyotype with several numerical and structural alterations, including ..
  49. Fabris V, Lodillinsky C, Pampena M, Belgorosky D, Lanari C, Eiján A. Cytogenetic characterization of the murine bladder cancer model MB49 and the derived invasive line MB49-I. Cancer Genet. 2012;205:168-76 pubmed publisher
    ..This model may be advantageous for the study of the genetic changes associated with the progression of bladder cancer. ..
  50. Mizukawa B, O Brien E, Moreira D, Wunderlich M, Hochstetler C, Duan X, et al. The cell polarity determinant CDC42 controls division symmetry to block leukemia cell differentiation. Blood. 2017;130:1336-1346 pubmed publisher
    ..Thus, CDC42 loss suppresses AML cell polarity and division asymmetry, and CDC42 constitutes a useful target to alter leukemia-initiating cell fate for differentiation therapy. ..
  51. Noronha Dutra A, Mancini T, Satomi Takeno S, Moysés Oliveira M, Kim C, Alvarez Perez A, et al. Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy. Cytogenet Genome Res. 2012;138:1-4 pubmed
    ..b>Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, ..
  52. Foyouzi N, Cedars M, Huddleston H. Cost-effectiveness of cytogenetic evaluation of products of conception in the patient with a second pregnancy loss. Fertil Steril. 2012;98:151-5 pubmed publisher
    ..Monte Caro analysis demonstrated a net economic benefit for the karyotype strategy ($4,498 [±$792] vs. $5,022 [±$1,130]). Our model suggests an economic advantage for obtaining a karyotype of POC in women with second miscarriage. ..
  53. Puccini J, Shalini S, Voss A, Gatei M, Wilson C, Hiwase D, et al. Loss of caspase-2 augments lymphomagenesis and enhances genomic instability in Atm-deficient mice. Proc Natl Acad Sci U S A. 2013;110:19920-5 pubmed publisher