The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Karyotyping


High impact information on Karyotyping

  • Direct gene analysis was used in the prenatal exclusion of ornithine transcarbamylase (OTC) deficiency; karyotyping the family's previously affected child had already identified the defect as a small deletion [5].
  • Novel molecular karyotyping methods, such as array-based comparative genomic hybridization (array CGH), can detect submicroscopic chromosome alterations at a resolution of 100 kb [6].
  • Our results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping [6].
  • None would have warranted karyotyping for clinical suspicion of Turner syndrome [7].
  • After a short-term (3-day) liquid culture, the cells were harvested, incorporated in methyl-cellulose, and individual colonies were analyzed by single colony karyotyping [8].

Biological context of Karyotyping

  • NF2 status was determined by LOH analysis, karyotyping and FISH [9].
  • In addition, in patients with CML karyotyping and analysis of bcr/abl gene rearrangement was performed [10].
  • Molecular typing was performed by a PCR-based method using the minisatellite-specific core sequence (M13), by electrophoretic karyotyping, by restriction fragment length polymorphisms with the C. neoformans transposon 1 (TCN-1), and by URA5 DNA sequence analysis [11].
  • However, she remained clinically well and further analysis y karyotyping of PHA-cultured peripheral blood mononuclear cells (PBMC) showed donor metaphases (XY) only [12].
  • The failure rate of post-termination karyotyping was significantly influenced by delivery-sampling interval, but not by gestational age, type of tissue sampled, use of potassium chloride, or aneuploidy [13].

Anatomical context of Karyotyping

  • The diagnosis of androgen resistance can be quite cumbersome, including analysis of the family history, karyotyping, endocrine studies, measurement of androgen binding in genital skin fibroblasts, and, in some instances, sequencing of mutant cDNAs [14].
  • Comparison of three BHH hybrid clones-BHH3, BHH8, and BHH2C-with 293-Puro (puromycin-resistant 293 cells) and MDBK-Neo (G418-resistant MDBK cells) cell lines for total cellular DNA content, species-specific surface markers, isoenzyme analysis, and karyotyping indicate that they are hybrid in nature [15].
  • Although different cell populations, especially T cells, showed mitotic activity in unstimulated short term culture, combined immunophenotyping and karyotyping unequivocally demonstrated that CD30 and CD15 positive Hodgkin and Sternberg-Reed cells represented the chromosomally aberrant clones [16].
  • INTERVENTION(S): Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by standard GBG, RBG, and CBG banding procedures [17].
  • Diagnostic methods included fetal ultrasound, amniocentesis for fetal karyotyping and amniotic fluid AFP/acetylcholinesterase (AChE) and/or fetal karyotyping after delivery, and dysmorphology evaluation of the fetus after intact delivery [18].

Associations of Karyotyping with chemical compounds


Gene context of Karyotyping

  • Conventional karyotyping revealed no evidence for a deletion and all or a majority of the affected family members were heterozygous for closely linked markers which mapped proximal to the NEFH locus (D22S1 and D22S56) and for the distal marker D22S32 [24].
  • PCR karyotyping that refined the region on chromosome 6 identified CRSP3/DRIP130, a transcriptional coactivator, as a metastasis suppressor [25].
  • The case also highlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency [26].
  • Comparative genomic hybridization suggested that the homozygous deletions of the p15, p16 and p14 were subtle chromosomal deletions and could not be identified by standard karyotyping in some cases [27].
  • Non-S. cerevisiae clones were identified as Saccharomyces uvarum by PCR-RFLP on MET2 gene and characterized at the strain level by karyotyping [28].

Analytical, diagnostic and therapeutic context of Karyotyping


  1. Caffeine intake and the risk of first-trimester spontaneous abortion. Cnattingius, S., Signorello, L.B., Annerén, G., Clausson, B., Ekbom, A., Ljunger, E., Blot, W.J., McLaughlin, J.K., Petersson, G., Rane, A., Granath, F. N. Engl. J. Med. (2000) [Pubmed]
  2. Digital karyotyping identifies thymidylate synthase amplification as a mechanism of resistance to 5-fluorouracil in metastatic colorectal cancer patients. Wang, T.L., Diaz, L.A., Romans, K., Bardelli, A., Saha, S., Galizia, G., Choti, M., Donehower, R., Parmigiani, G., Shih, I.e.M., Iacobuzio-Donahue, C., Kinzler, K.W., Vogelstein, B., Lengauer, C., Velculescu, V.E. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  3. Translocation t(2;3)(p15-23;q26-27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features. Stevens-Kroef, M., Poppe, B., van Zelderen-Bhola, S., van den Berg, E., van der Blij-Philipsen, M., Geurts van Kessel, A., Slater, R., Hamers, G., Michaux, L., Speleman, F., Hagemeijer, A. Leukemia (2004) [Pubmed]
  4. Amniotic fluid-AFP in Down syndrome and other chromosome abnormalities. Crandall, B.F., Matsumoto, M., Perdue, S. Prenat. Diagn. (1988) [Pubmed]
  5. Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Old, J.M., Briand, P.L., Purvis-Smith, S., Howard, N.J., Wilcken, B., Hammond, J., Pearson, P., Cathelineau, L., Williamson, R., Davies, K.E. Lancet (1985) [Pubmed]
  6. Diagnostic genome profiling in mental retardation. de Vries, B.B., Pfundt, R., Leisink, M., Koolen, D.A., Vissers, L.E., Janssen, I.M., Reijmersdal, S., Nillesen, W.M., Huys, E.H., Leeuw, N., Smeets, D., Sistermans, E.A., Feuth, T., van Ravenswaaij-Arts, C.M., van Kessel, A.G., Schoenmakers, E.F., Brunner, H.G., Veltman, J.A. Am. J. Hum. Genet. (2005) [Pubmed]
  7. Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. Koeberl, D.D., McGillivray, B., Sybert, V.P. Am. J. Hum. Genet. (1995) [Pubmed]
  8. Identification of Philadelphia-negative granulocyte-macrophage colony-forming units generated by stroma-adherent cells from chronic myelogenous leukemia patients. Carlo-Stella, C., Mangoni, L., Piovani, G., Garau, D., Almici, C., Rizzoli, V. Blood (1994) [Pubmed]
  9. NF2 status of meningiomas is associated with tumour localization and histology. Kros, J., de Greve, K., van Tilborg, A., Hop, W., Pieterman, H., Avezaat, C., Lekanne Dit Deprez, R., Zwarthoff, E. J. Pathol. (2001) [Pubmed]
  10. Monitoring of chimerism after allogeneic bone marrow transplantation with unmanipulated marrow by use of DNA polymorphisms. Suttorp, M., Schmitz, N., Dreger, P., Schaub, J., Löffler, H. Leukemia (1993) [Pubmed]
  11. Molecular epidemiology of clinical Cryptococcus neoformans strains from India. Jain, N., Wickes, B.L., Keller, S.M., Fu, J., Casadevall, A., Jain, P., Ragan, M.A., Banerjee, U., Fries, B.C. J. Clin. Microbiol. (2005) [Pubmed]
  12. Mixed chimerism following bone marrow transplantation for severe combined immunodeficiency: a study by DNA fingerprinting and simultaneous immunophenotyping and fluorescence in situ hybridisation. Lau, Y.L., Kwong, Y.L., Lee, A.C., Chiu, E.K., Ha, S.Y., Chan, C.F., Chan, V., Chan, T.K. Bone Marrow Transplant. (1995) [Pubmed]
  13. High failure rate of postmortem karyotyping after termination for fetal abnormality. Kyle, P.M., Sepulveda, W., Blunt, S., Davies, G., Cox, P.M., Fisk, N.M. Obstetrics and gynecology. (1996) [Pubmed]
  14. The adenovirus-mediated delivery of a reporter gene permits the assessment of androgen receptor function in genital skin fibroblast cultures. Stimulation of Gs and inhibition of G(o). McPhaul, M.J., Deslypere, J.P., Allman, D.R., Gerard, R.D. J. Biol. Chem. (1993) [Pubmed]
  15. Development and characterization of bovine x human hybrid cell lines that efficiently support the replication of both wild-type bovine and human adenoviruses and those with E1 deleted. van Olphen, A.L., Mittal, S.K. J. Virol. (2002) [Pubmed]
  16. Cytogenetic findings and results of combined immunophenotyping and karyotyping in Hodgkin's disease. Schlegelberger, B., Weber-Matthiesen, K., Himmler, A., Bartels, H., Sonnen, R., Kuse, R., Feller, A.C., Grote, W. Leukemia (1994) [Pubmed]
  17. Nonrobertsonian translocation t(6;11) is associated with infertility in an oligoazoospermic male. Pernice, F., Mazza, G., Puglisi, D., Luppino, M.G., Frisina, N. Fertil. Steril. (2002) [Pubmed]
  18. Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally. Steinhaus, K.A., Bernstein, R., Bocian, M.E. Clin. Genet. (1991) [Pubmed]
  19. Molecular subtypes and antifungal susceptibilities of serial Cryptococcus neoformans isolates in human immunodeficiency virus-associated Cryptococcosis. Cryptococcal Disease Active Surveillance Group. Brandt, M.E., Pfaller, M.A., Hajjeh, R.A., Graviss, E.A., Rees, J., Spitzer, E.D., Pinner, R.W., Mayer, L.W. J. Infect. Dis. (1996) [Pubmed]
  20. Postsurgical Candida albicans infections associated with an extrinsically contaminated intravenous anesthetic agent. McNeil, M.M., Lasker, B.A., Lott, T.J., Jarvis, W.R. J. Clin. Microbiol. (1999) [Pubmed]
  21. Genetics and electrophoretic karyotyping of wild-type and astaxanthin mutant strains of Phaffia rhodozyma. Cifuentes, V., Hermosilla, G., Martínez, C., León, R., Pincheira, G., Jiménez, A. Antonie Van Leeuwenhoek (1997) [Pubmed]
  22. Genetic analysis of hydatidiform moles utilizing the oligonucleotide-DNA typing of the HLA-DRB gene. Yabe, N., Maeda, T., Kashiwagi, N., Obata, F. Placenta (1994) [Pubmed]
  23. Karyotyping of comparative genomic hybridization human metaphases using kernel nearest-neighbor algorithm. Yu, K., Ji, L. Cytometry. (2002) [Pubmed]
  24. A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Watson, C.J., Gaunt, L., Evans, G., Patel, K., Harris, R., Strachan, T. Hum. Mol. Genet. (1993) [Pubmed]
  25. Melanoma metastasis suppression by chromosome 6: evidence for a pathway regulated by CRSP3 and TXNIP. Goldberg, S.F., Miele, M.E., Hatta, N., Takata, M., Paquette-Straub, C., Freedman, L.P., Welch, D.R. Cancer Res. (2003) [Pubmed]
  26. A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Wei, F., Cheng, S., Badie, N., Elder, F., Scott, C., Nicholson, L., Ross, J.L., Zinn, A.R. Am. J. Med. Genet. (2001) [Pubmed]
  27. Molecular analysis of tumor suppressor genes, Rb, p53, p16INK4A, p15INK4B and p14ARF in natural killer cell neoplasms. Sakajiri, S., Kawamata, N., Egashira, M., Mori, K., Oshimi, K. Jpn. J. Cancer Res. (2001) [Pubmed]
  28. Predominance of Saccharomyces uvarum during spontaneous alcoholic fermentation, for three consecutive years, in an Alsatian winery. Demuyter, C., Lollier, M., Legras, J.L., Le Jeune, C. J. Appl. Microbiol. (2004) [Pubmed]
  29. c-MYC overexpression in Ba/F3 cells simultaneously elicits genomic instability and apoptosis. Fest, T., Mougey, V., Dalstein, V., Hagerty, M., Milette, D., Silva, S., Mai, S. Oncogene (2002) [Pubmed]
  30. Double induction strategy including high dose cytarabine in combination with all-trans retinoic acid: effects in patients with newly diagnosed acute promyelocytic leukemia. German AML Cooperative Group. Lengfelder, E., Reichert, A., Schoch, C., Haase, D., Haferlach, T., Löffler, H., Staib, P., Heyll, A., Seifarth, W., Saussele, S., Fonatsch, C., Gassmann, W., Ludwig, W.D., Hochhaus, A., Beelen, D., Aul, C., Sauerland, M.C., Heinecke, A., Hehlmann, R., Wörmann, B., Hiddemann, W., Büchner, T. Leukemia (2000) [Pubmed]
  31. Molecular analysis in Turner syndrome. ALvarez-Nava, F., Soto, M., Sánchez, M.A., Fernández, E., Lanes, R. J. Pediatr. (2003) [Pubmed]
  32. Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). Karaviti, L.P., Mercado, A.B., Mercado, M.B., Speiser, P.W., Buegeleisen, M., Crawford, C., Antonian, L., White, P.C., New, M.I. J. Steroid Biochem. Mol. Biol. (1992) [Pubmed]
  33. Management of the fetus with an abdominal wall defect: experience of 31 cases. Hsieh, T.T., Lai, Y.M., Liou, J.D., Soong, Y.K., Lin, J.N. Taiwan Yi Xue Hui Za Zhi (1989) [Pubmed]
WikiGenes - Universities