Summary: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)

Top Publications

  1. Moore G, Sandberg A. STUDIES OF A HUMAN TUMOR CELL LINE WITH A DIPLOID KARYOTYPE. Cancer. 1964;17:170-5 pubmed
  2. Chen Z, Chang W, Etheridge A, Strickfaden H, Jin Z, Palidwor G, et al. Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape. Aging Cell. 2017;16:870-887 pubmed publisher
  3. Huang J, Ge M, Lu S, Shi J, Li X, Zhang J, et al. Mutations of ASXL1 and TET2 in aplastic anemia. Haematologica. 2015;100:e172-5 pubmed publisher
  4. Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, et al. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn. 2013;33:1207-10 pubmed publisher
  5. Dillon R, Grimwade D. Prognostic significance of additional cytogenetic abnormalities and FLT3 mutations in acute promyelocytic leukemia. Leuk Lymphoma. 2014;55:1444-6 pubmed publisher
  6. Iannuzzi A, Pereira J, Iannuzzi C, Fu B, Ferguson Smith M. Pooling strategy and chromosome painting characterize a living zebroid for the first time. PLoS ONE. 2017;12:e0180158 pubmed publisher
    We have investigated the complex karyotype of a living zebra-donkey hybrid for the first time using chromosome-specific painting probes produced from flow-sorted chromosomes from a zebra (Equus burchelli) and horse (Equus caballus)...
  7. Malcher S, Pieczarka J, Geise L, Rossi R, Pereira A, O Brien P, et al. Oecomys catherinae (Sigmodontinae, Cricetidae): Evidence for chromosomal speciation?. PLoS ONE. 2017;12:e0181434 pubmed publisher
    ..Our results confirm that Oecomys catherinae occurs in the southeast Amazon, and reveal a new karyotype for the species (2n = 62, FNa = 62)...
  8. Gallo R, Aguiar R, Ricietto A, Vilas Boas L, da Silva C, Ribeiro J, et al. A New Approach to Chromosomal Evolution in the Giant Water Bug (Heteroptera: Belostomatidae). J Hered. 2017;108:184-193 pubmed publisher
    ..Notwithstanding, its karyotype evolution is not well understood. We analyzed 8 species of Belostoma (77 samples)...
  9. Ofverholm I, Tran A, Heyman M, Zachariadis V, Nordenskjold M, Nordgren A, et al. Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols. Leukemia. 2013;27:1936-9 pubmed publisher

More Information


  1. Zhou J, Yao D, Han L, Xiao G, Guo H, Zhang T, et al. Low NKD1 expression predicts adverse prognosis in cytogenetically normal acute myeloid leukemia. Tumour Biol. 2017;39:1010428317699123 pubmed publisher
    ..001). These findings indicated that reduced NKD1 expression is associated with unfavorable clinical outcome in cytogenetically normal acute myeloid leukemia. ..
  2. Zhang S, Lv Z, Hu Y, Liu L, Gong W, Li Q, et al. Generation of a human induced pluripotent stem cell (iPSC) line from a 64year old male patient with multiple schwannoma. Stem Cell Res. 2017;19:49-51 pubmed publisher
    ..The iPSC line also showed normal karyotype. This in vitro cellular model will be useful for further pathological studies of multiple schwannoma.
  3. Kim S, Habib O, Kim J, Han H, Koo S, Kim J. Generation of a Nrf2 homozygous knockout human embryonic stem cell line using CRISPR/Cas9. Stem Cell Res. 2017;19:46-48 pubmed publisher
    ..The Nrf2 homozygous knockout H9 cell line maintains pluripotency, differentiation potential into three germ layers, and a normal karyotype.
  4. Toustrup L, Zhou Y, Kvistgaard H, Gregersen N, Rittig S, Aagaard L, et al. Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene. Stem Cell Res. 2017;19:37-42 pubmed publisher
    ..pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts...
  5. Ahn J, Kim H, Kim Y, Jung S, Yang D, Lee J, et al. Adverse prognostic effect of homozygous TET2 mutation on the relapse risk of acute myeloid leukemia in patients of normal karyotype. Haematologica. 2015;100:e351-3 pubmed publisher
  6. Breems D, van Putten W, Lowenberg B. The impact of abn(17p) and monosomy -5/del(5q) on the prognostic value of the monosomal karyotype in acute myeloid leukemia. Blood. 2013;121:3056-7 pubmed publisher
  7. Akasaka T, Kishimori C, Fukutsuka K, Nakagawa M, Takeoka K, Hayashida M, et al. The novel double-hit, t(8;22)(q24;q11)/MYC-IGL and t(14;15)(q32;q24)/IGH-BCL2A1, in diffuse large B-cell lymphoma. Cancer Genet. 2017;214-215:26-31 pubmed publisher
    ..G-banding and fluorescence in situ hybridization showed a hypertetraploid karyotype with two copies of t(8;22)(q24;q11), generating the fusion of MYC and the immunoglobulin ? chain gene (IGL), and ..
  8. Anderson M, Tam C, Lew T, Juneja S, Juneja M, Westerman D, et al. Clinicopathological features and outcomes of progression of CLL on the BCL2 inhibitor venetoclax. Blood. 2017;129:3362-3370 pubmed publisher
    ..the recommended phase 2 dose of venetoclax or higher (?400 mg/d), fludarabine refractoriness and complex karyotype were associated with progression (hazard ratio 7.01 [95% confidence interval 1.7-28.5]; P = .002 and 6...
  9. Nalepa C, Shimada K, Maekawa K, Luykx P. Distribution of Karyotypes of the Cryptocercus punctulatus Species Complex (Blattodea: Cryptocercidae) in Great Smoky Mountains National Park. J Insect Sci. 2017;17: pubmed publisher
    ..Clades of the three karyotype groups meet near the ridgeline separating North Carolina from Tennessee in the center of the park, suggesting ..
  10. O Connor R, Fonseka G, Frodsham R, Archibald A, Lawrie M, Walling G, et al. Isolation of subtelomeric sequences of porcine chromosomes for translocation screening reveals errors in the pig genome assembly. Anim Genet. 2017;48:395-403 pubmed publisher
    ..This has previously been achieved by standard karyotype analysis; however, this approach relies on a significant level of expertise and is limited in its ability to ..
  11. Tefferi A, Finke C, Lasho T, Wassie E, Knudson R, Ketterling R, et al. U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype. Leukemia. 2014;28:431-3 pubmed publisher
  12. Jain M, Tripathi A. ICUS/CCUS/CHIP: basics & beyond. Expert Rev Hematol. 2017;10:915-920 pubmed publisher
    Patients presenting with idiopathic cytopenia with non-diagnostic marrow morphology and a normal karyotype pose a diagnostic and therapeutic challenge...
  13. Wang G, He Q, Macas J, Novak P, Neumann P, Meng D, et al. Karyotypes and Distribution of Tandem Repeat Sequences in Brassica nigra Determined by Fluorescence in situ Hybridization. Cytogenet Genome Res. 2017;152:158-165 pubmed publisher
    ..A karyotype showing the location and fluorescence intensity of these tandem repeat sequences together with the position of ..
  14. Mackiewicz P, Moska M, Wierzbicki H, Gagat P, Mackiewicz D. Evolutionary history and phylogeographic relationships of shrews from Sorex araneus group. PLoS ONE. 2017;12:e0179760 pubmed publisher
    ..The taxa showing the greatest variation in karyotype are usually classified into the Sorex araneus group...
  15. Sharma R, Harris V, Cavett J, Kurien B, Liu K, Koelsch K, et al. Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome. Arthritis Rheumatol. 2017;69:2187-2192 pubmed publisher
    ..constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients...
  16. Poplavskaya N, Romanenko S, Serdyukova N, Trifonov V, Yang F, Nie W, et al. Karyotype Evolution and Phylogenetic Relationships of Cricetulus sokolovi Orlov et Malygin 1988 (Cricetidae, Rodentia) Inferred from Chromosomal Painting and Molecular Data. Cytogenet Genome Res. 2017;152:65-72 pubmed publisher
    ..The species was described based on chromosome morphology, but neither the details of the karyotype nor the phylogenetic relationships with other Cricetulus are known. In the present study, the karyotype of C...
  17. Libura M, Giebel S, Piatkowska Jakubas B, Pawelczyk M, Florek I, Matiakowska K, et al. Cladribine added to daunorubicin-cytarabine induction prolongs survival of FLT3-ITD+ normal karyotype AML patients. Blood. 2016;127:360-2 pubmed publisher
  18. Santaguida S, Richardson A, Iyer D, M Saad O, Zasadil L, Knouse K, et al. Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System. Dev Cell. 2017;41:638-651.e5 pubmed publisher
    Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution...
  19. Colomina V, Catalan J, Britton Davidian J, Veyrunes F. Extensive Amplification of Telomeric Repeats in the Karyotypically Highly Diverse African Pygmy Mice. Cytogenet Genome Res. 2017;152:55-64 pubmed publisher
    ..ITSs are considered as relics of past chromosomal rearrangements and as such provide important insights into karyotype evolution...
  20. Soler A, Morales C, Mademont Soler I, Margarit E, Borrell A, Borobio V, et al. Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes. Cytogenet Genome Res. 2017;152:81-89 pubmed publisher
    ..An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64...
  21. Capela de Matos R, Ney Garcia D, Cifoni E, Othman M, Tavares de Souza M, Carboni E, et al. GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies. Cytogenet Genome Res. 2017;152:33-37 pubmed publisher
    ..A novel complex hyperdiploid karyotype 53,XX,+X,+6,t(9;11)(p21.3;q23.3),+der(9)t(9;11)(p21.3;q23...
  22. Dzimira S, Nizanski W, Madej J. Morphological analysis of testicles in cats with disorders of sex development. Pol J Vet Sci. 2017;20:123-131 pubmed publisher
    ..The number of blood vessels in cats with DSD is reduced by about 30%. It confirms the recommendations for castration of these animals in order to eliminate the potential inheritance of sex development disorders. ..
  23. Amorim K, Cioffi M, Bertollo L, Soares R, Calado L, Borges A, et al. Interregional cytogenetic comparisons in Halichoeres and Thalassoma wrasses (Labridae) of coastal and insular regions of the southwestern Atlantic. Genet Mol Res. 2017;16: pubmed publisher
    ..In this study, we compared several chromosomal features, such as karyotype macrostructure, heterochromatic patterns, patterns of base-specific fluorochromes, Ag-NORs, and 18S and 5S ..
  24. Degrandi T, del Valle Garnero A, O Brien P, Ferguson Smith M, Kretschmer R, de Oliveira E, et al. Chromosome Painting in Trogon s. surrucura (Aves, Trogoniformes) Reveals a Karyotype Derived by Chromosomal Fissions, Fusions, and Inversions. Cytogenet Genome Res. 2017;151:208-215 pubmed publisher
    ..So far, no cytogenetic data for these birds exist. Hence, the aim of this study was to characterize the karyotype of Trogon surrucura surrucura by means of classical and molecular cytogenetics...
  25. Dutrillaux A, Dutrillaux B. Evolution of the Sex Chromosomes in Beetles. I. The Loss of the Y Chromosome. Cytogenet Genome Res. 2017;152:97-104 pubmed publisher
    ..In conclusion, following Y chromosome loss, various strategies using nucleolar proteins have been developed to facilitate the migration of the unique X at meiotic anaphase I. ..
  26. Bolsheva N, Melnikova N, Kirov I, Speranskaya A, Krinitsina A, Dmitriev A, et al. Evolution of blue-flowered species of genus Linum based on high-throughput sequencing of ribosomal RNA genes. BMC Evol Biol. 2017;17:253 pubmed publisher
    ..High-throughput sequencing of multicopy rRNA gene families allowed us to make several adjustments to the phylogeny of blue-flowered flax species and also reveal intra- and interspecific divergence of the rRNA gene sequences. ..
  27. Soares R, Cioffi M, Bertollo L, Borges A, Costa G, Molina W. Chromosomal evolution in large pelagic oceanic apex predators, the barracudas (Sphyraenidae, Percomorpha). Genet Mol Res. 2017;16: pubmed publisher
    ..This indicates homoplasic characteristics, with similar karyotype patterns originating at least twice, independently...
  28. Jetybayev I, Bugrov A, Unal M, Buleu O, Rubtsov N. Molecular cytogenetic analysis reveals the existence of two independent neo-XY sex chromosome systems in Anatolian Pamphagidae grasshoppers. BMC Evol Biol. 2017;17:20 pubmed publisher
    ..The basal karyotype for the Pamphagidae family, consisting of 18 acrocentric autosomes and an acrocentric X chromosome (2n??=?19, X0;..
  29. Mao Y, Chen S, Wang R, Wang X, Qin D, Tang Y. Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series. BMC Urol. 2017;17:21 pubmed publisher
    ..No gonadal tumors were detected. OT-DSD is a rare and complex deformity with few systematic reports in China. It's important to establish a regular algorithm for evaluation and treatment of OT-DSD. ..
  30. Zhang S, Lv Z, Zhang S, Liu L, Li Q, Gong W, et al. Characterization of human induced pluripotent stem cell (iPSC) line from a 72year old male patient with later onset Alzheimer's disease. Stem Cell Res. 2017;19:34-36 pubmed publisher
    ..The iPSC line also showed normal karyotype. This in vitro cellular model will be useful for studying the pathological mechanism of Alzheimer's disease.
  31. Almeida B, Milhomem Paixão S, Noronha R, Nagamachi C, Costa M, Pardal P, et al. Karyotype diversity and chromosomal organization of repetitive DNA in Tityus obscurus (Scorpiones, Buthidae). BMC Genet. 2017;18:35 pubmed publisher
    ..Among them, the genus Tityus (Scorpiones, Buthidae) has a labile karyotype that shows complex multivalent associations during male meiosis...
  32. Yang J, Park T, Lee S, Seo J, Oh S, Cho E, et al. Molecular characterization and clinical course of MLL-ACTN4 rearrangement in therapy-related hematologic malignancies. Haematologica. 2014;99:e49-51 pubmed publisher
  33. Douet Guilbert N, Chauveau A, Gueganic N, Guillerm G, Tous C, LE Bris M, et al. Acute myeloid leukaemia (FAB AML-M4Eo) with cryptic insertion of cbfb resulting in cbfb-Myh11 fusion. Hematol Oncol. 2017;35:385-389 pubmed publisher
    ..However, in a few cases, although RT-PCR identified a CBFB-MYH11 transcript, normal karyotype and/or fluorescent in situ hybridization (FISH) analyses using commercially available probes are found...
  34. Collado R, Puiggros A, López Guerrero J, Calasanz M, Larráyoz M, Ivars D, et al. Chronic lymphocytic leukemia with isochromosome 17q: An aggressive subgroup associated with TP53 mutations and complex karyotypes. Cancer Lett. 2017;409:42-48 pubmed publisher
    ..044). In conclusion, our findings provide new insights regarding i(17q) in CLL and show a subgroup with adverse prognostic features. ..
  35. Augustinos A, Drosopoulou E, Gariou Papalexiou A, Bourtzis K, Mavragani Tsipidou P, Zacharopoulou A. The Bactrocera dorsalis species complex: comparative cytogenetic analysis in support of Sterile Insect Technique applications. BMC Genet. 2014;15 Suppl 2:S16 pubmed publisher
    ..Moreover, the availability of 'universal' reference polytene chromosome maps for members of the complex, along with the documented application of in situ hybridization, can facilitate ongoing and future genome projects in this complex. ..
  36. Gower W, Risch R, Godellas C, Fabri P. HPAC, a new human glucocorticoid-sensitive pancreatic ductal adenocarcinoma cell line. In Vitro Cell Dev Biol Anim. 1994;30A:151-61 pubmed
    ..These findings support a role for glucocorticoids in the regulation of human malignant pancreatic cell function. ..
  37. Schmid M, Steinlein C, Winking H. Multicolor Spectral Analyses of Mitotic and Meiotic Mouse Chromosomes Involved in Multiple Robertsonian Translocations. II. The NMRI/CD and CD/TA Hybrid Strains. Cytogenet Genome Res. 2017;151:18-26 pubmed publisher
    ..In the majority of diakineses of the NMRI/CD and CD/TA hybrids, the free autosomal bivalent 19 and the XY sex bivalent formed noticeable tight spatial associations. ..
  38. Parveen S, Panicker M, Gupta P. Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion. Stem Cell Res. 2017;19:12-16 pubmed publisher
    ..The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation...
  39. Zhang S, Liu L, Hu Y, Lv Z, Li Q, Gong W, et al. Derivation of human induced pluripotent stem cell (iPSC) line from a 79year old sporadic male Parkinson's disease patient. Stem Cell Res. 2017;19:43-45 pubmed publisher
    ..The iPSC line also showed normal karyotype. This in vitro cellular model can be used to study the mechanism of sporadic Parkinson's disease and to test new ..
  40. Yu F, Wang H, Zhao Y, Liu R, Dou Q, Dong J, et al. Karyotypic evolution of the Medicago complex: sativa-caerulea-falcata inferred from comparative cytogenetic analysis. BMC Evol Biol. 2017;17:104 pubmed publisher
    Polyploidy plays an important role in the adaptation and speciation of plants. The alteration of karyotype is a significant event during polyploidy formation...
  41. Zhang S, Lv Z, Liu Y, Li Q, Gong W, Liu L, et al. Development of human induced pluripotent stem cell (iPSC) line from a 60year old female patient with multiple schwannoma. Stem Cell Res. 2017;19:31-33 pubmed publisher
    ..The iPSC line also showed normal karyotype. This in vitro cellular model will be useful for further pathological studies of multiple schwannoma.
  42. Boddu P, Kantarjian H, Ravandi F, Garcia Manero G, Verstovsek S, Jabbour E, et al. Characteristics and outcomes of older patients with secondary acute myeloid leukemia according to treatment approach. Cancer. 2017;123:3050-3060 pubmed publisher
    ..antecedent hematologic disorder (AHD), a diagnosis of therapy-related acute myeloid leukemia (AML), and AML with karyotype abnormalities characteristic of myelodysplastic syndrome...
  43. Kim S, Habib O, Kim J, Han H, Koo S, Kim J. A homozygous Keap1-knockout human embryonic stem cell line generated using CRISPR/Cas9 mediates gene targeting. Stem Cell Res. 2017;19:52-54 pubmed publisher
    ..The Keap1 homozygous-knockout H9 cell line retained normal morphology, gene expression, and in vivo differentiation potential. ..
  44. Morais C, Affonso P, Bitencourt J, Wenceslau A. Cytogenetic aspects of a canine breast carcinosarcoma - a case report. Genet Mol Res. 2017;16: pubmed publisher
    ..Of the 105 blood cells, 56.3% followed the standard karyotype of dogs (2n = 78)...
  45. Zepeda Mendoza C, Ibn Salem J, Kammin T, Harris D, Rita D, Gripp K, et al. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017;101:206-217 pubmed publisher
  46. Gonzalez R, Garitaonandia I, Poustovoitov M, Abramihina T, McEntire C, Culp B, et al. Neural Stem Cells Derived from Human Parthenogenetic Stem Cells Engraft and Promote Recovery in a Nonhuman Primate Model of Parkinson's Disease. Cell Transplant. 2016;25:1945-1966 pubmed publisher
    ..These results provide further evidence for the clinical translation of hpNSCs and support the approval of the world's first pluripotent stem cell-based phase I/IIa study for the treatment of PD (Clinical Trial Identifier NCT02452723). ..
  47. Sandhöfer N, Metzeler K, Kakadia P, Pasalic Z, Hiddemann W, Neusser M, et al. A fluorescence in situ hybridization-based screen allows rapid detection of adverse cytogenetic alterations in patients with acute myeloid leukemia. Genes Chromosomes Cancer. 2017;56:632-638 pubmed publisher
    In adult acute myeloid leukemia (AML), the karyotype of the leukemic cell is among the strongest prognostic factors...
  48. Schmid M, Steinlein C, Lomb C, Volleth M. Demonstration of 5-Methylcytosine-Rich DNA Sequences in Chiroptera. Cytogenet Genome Res. 2017;152:38-45 pubmed publisher
    ..The analysis of 5-methylcytosine-rich chromosome regions elucidates valuable data for chiropteran cytogenetics and reflects the high pace of evolution of the repetitive DNA fraction in their genomes. ..
  49. O Neill M, O Neill R. Genomics: Something to swing about. Nature. 2014;513:174-5 pubmed publisher
  50. Batista J, Cardoso A, Milhomem Paixão S, Ready J, Pieczarka J, Nagamachi C. The Karyotype of Microsternarchus aff. bilineatus: A First Case of Y Chromosome Degeneration in Gymnotiformes. Zebrafish. 2017;14:244-250 pubmed publisher
    ..Here, we describe the karyotype of M. aff. bilineatus from the Cururutuia River (Bragança, Pará, Brazil)...
  51. Crawford D, Dearmun A. Klinefelter syndrome. Nurs Child Young People. 2017;29:19 pubmed publisher
    ..It is thought that one male in every 500 live births is affected and the incidence is rising. However, this may be due to increasing awareness, reflective of the sophistication of the methods to diagnose. ..
  52. Gouveia J, Wolf I, Vilas Boas L, Heslop Harrison J, Schwarzacher T, Dias A. Repetitive DNA in the Catfish Genome: rDNA, Microsatellites, and Tc1-Mariner Transposon Sequences in Imparfinis Species (Siluriformes, Heptapteridae). J Hered. 2017;108:650-657 pubmed publisher
    ..borodini and I. schubarti genomes and that the distribution patterns of these elements may be related to karyotype evolution within Imparfinis.
  53. Espinoza J, Elbadry M, Taniwaki M, Harada K, Trung L, Nakagawa N, et al. The simultaneous inhibition of the mTOR and MAPK pathways with Gnetin-C induces apoptosis in acute myeloid leukemia. Cancer Lett. 2017;400:127-136 pubmed publisher
    ..Among the various subtypes, AML with the monosomal karyotype (AML-MK) has an extremely unfavorable prognosis...