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Disease relevance of Trisomy


Psychiatry related information on Trisomy


High impact information on Trisomy

  • Studies in two related patients with a partial trisomy 18p revealed three copies of the PACAP gene and elevated PACAP concentrations in plasma [11].
  • The present observation provides new impetus for studying synthesis and transport of myo-inositol as well as phosphatidylinositol cycle in trisomy 21 disorder [12].
  • Quinacrine fluorescence analysis revealed that cells with No. 2 trisomy or either of two types of long No. 2 had total and partial No. 2 trisomy, respectively [13].
  • CONCLUSIONS: Refractory celiac sprue is strongly associated with partial trisomy of the 1q region [14].
  • Of 81 patients identified with a moderate increase (grade 2), 2 had trisomy 21 and 2 had CF [15].

Chemical compound and disease context of Trisomy


Biological context of Trisomy


Anatomical context of Trisomy


Associations of Trisomy with chemical compounds

  • Copper/zinc superoxide dismutase activity in trisomy 21 by translocation [31].
  • In contrast, trisomy 8 developed in patients with good hematologic responses who often required chronic immunosuppression with cyclosporine A (CsA), and survival was excellent [32].
  • Chromosome 6 exhibited a high frequency of trisomies and tetrasomies in the kidney after 5.0 months of estrogen treatment and in primary renal tumors [33].
  • A high maximal dose, or cumulative dose of anthracycline, female sex, black race, presence of trisomy 21, and treatment with amsacrine increase the risk for anthracycline-associated cardiotoxicity [34].
  • When exposed to gamma-rays or bleomycin in G0, trisomy 21 lymphocytes showed a 30% or, on average, 50% longer duration of cell turnover times, respectively, than normal cells; only bleomycin-treated trisomic cells had a biphasic dose-response [35].

Gene context of Trisomy

  • We observed a significant increase in the MTHFR polymorphism in mothers of trisomy 18 conceptuses but were unable to identify any other significant associations [22].
  • In the present report, we asked whether variation at MTHFR (677C-->T) or MTRR (66A-->G) might be associated with human trisomies other than trisomy 21 [22].
  • As a test for the validation of this method, 10 coded blood DNAs from five normal controls and from five trisomy 21 patients were analyzed, by using two reference (COL1A1 and COL1A2) and two chromosome 21 (D21S11 and D21S17) probes [36].
  • These findings suggest that acquired intrauterine inactivating mutations in GATA1 and generation of GATA1s cooperate frequently with trisomy 21 in initiating megakaryoblastic proliferation, but are insufficient for progression to AMKL [37].
  • High expression of CLLU1 in CLL samples occurred irrespective of trisomy 12 or large chromosomal rearrangements [38].

Analytical, diagnostic and therapeutic context of Trisomy


  1. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Schmidt, L., Duh, F.M., Chen, F., Kishida, T., Glenn, G., Choyke, P., Scherer, S.W., Zhuang, Z., Lubensky, I., Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U.R., Feltis, J.T., Casadevall, C., Zamarron, A., Bernues, M., Richard, S., Lips, C.J., Walther, M.M., Tsui, L.C., Geil, L., Orcutt, M.L., Stackhouse, T., Lipan, J., Slife, L., Brauch, H., Decker, J., Niehans, G., Hughson, M.D., Moch, H., Storkel, S., Lerman, M.I., Linehan, W.M., Zbar, B. Nat. Genet. (1997) [Pubmed]
  2. The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Tanzi, R.E., St George-Hyslop, P.H., Haines, J.L., Polinsky, R.J., Nee, L., Foncin, J.F., Neve, R.L., McClatchey, A.I., Conneally, P.M., Gusella, J.F. Nature (1987) [Pubmed]
  3. Establishment and chromosome studies of in vitro lines of chemically induced rat erythroblastic leukemia cells. Maeda, S., Uenaka, H., Ueda, N., Shiraishi, N., Suglyama, T. J. Natl. Cancer Inst. (1980) [Pubmed]
  4. Fetal abnormalities in cystic fibrosis suggest a deficiency in proteolysis of cholecystokinin. Gosden, C.M., Gosden, J.R. Lancet (1984) [Pubmed]
  5. Detection of tandem duplications and implications for linkage analysis. Matise, T.C., Chakravarti, A., Patel, P.I., Lupski, J.R., Nelis, E., Timmerman, V., Van Broeckhoven, C., Weeks, D.E. Am. J. Hum. Genet. (1994) [Pubmed]
  6. Dyrk1A potentiates steroid hormone-induced transcription via the chromatin remodeling factor Arip4. Sitz, J.H., Tigges, M., Baumgärtel, K., Khaspekov, L.G., Lutz, B. Mol. Cell. Biol. (2004) [Pubmed]
  7. Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. Bzduch, V., Behulova, D., Pevalova, L., Cisarik, F., Benedekova, M. Bratislavské lekárske listy. (2003) [Pubmed]
  8. Slowed synthesis of DNA and methionine is a pathogenetic mechanism common to dementia in Down's syndrome, AIDS and Alzheimer's disease? Regland, B., Gottfries, C.G. Med. Hypotheses (1992) [Pubmed]
  9. Endogenous sodium-potassium ATPase inhibition related biochemical cascade in trisomy 21 and Huntington's disease: neural regulation of genomic function. Kumar, A.R., Kurup, P.A. Neurology India. (2002) [Pubmed]
  10. Chromosomal abnormalities in a series of children with autistic disorder. Konstantareas, M.M., Homatidis, S. Journal of autism and developmental disorders. (1999) [Pubmed]
  11. The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation. Freson, K., Hashimoto, H., Thys, C., Wittevrongel, C., Danloy, S., Morita, Y., Shintani, N., Tomiyama, Y., Vermylen, J., Hoylaerts, M.F., Baba, A., Van Geet, C. J. Clin. Invest. (2004) [Pubmed]
  12. Polyol profiles in Down syndrome. myo-Inositol, specifically, is elevated in the cerebrospinal fluid. Shetty, H.U., Schapiro, M.B., Holloway, H.W., Rapoport, S.I. J. Clin. Invest. (1995) [Pubmed]
  13. Reproducible chromosome changes of polycyclic hydrocarbon-induced rat leukemia: incidence and chromosome banding pattern. Sugiyama, T., Uenaka, H., Ueda, N., Fukuhara, S., Maeda, S. J. Natl. Cancer Inst. (1978) [Pubmed]
  14. Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue. Verkarre, V., Romana, S.P., Cellier, C., Asnafi, V., Mention, J.J., Barbe, U., Nusbaum, S., Hermine, O., Macintyre, E., Brousse, N., Cerf-Bensussan, N., Radford-Weiss, I. Gastroenterology (2003) [Pubmed]
  15. Prognostic implications of fetal echogenic bowel. Slotnick, R.N., Abuhamad, A.Z. Lancet (1996) [Pubmed]
  16. Gene dosage of CuZnSOD and Down's syndrome: diminished prostaglandin synthesis in human trisomy 21, transfected cells and transgenic mice. Minc-Golomb, D., Knobler, H., Groner, Y. EMBO J. (1991) [Pubmed]
  17. Low glucose metabolism during brain stimulation in older Down's syndrome subjects at risk for Alzheimer's disease prior to dementia. Pietrini, P., Dani, A., Furey, M.L., Alexander, G.E., Freo, U., Grady, C.L., Mentis, M.J., Mangot, D., Simon, E.W., Horwitz, B., Haxby, J.V., Schapiro, M.B. The American journal of psychiatry. (1997) [Pubmed]
  18. Patients with isolated trisomy 8 in acute myeloid leukemia are not cured with cytarabine-based chemotherapy: results from Cancer and Leukemia Group B 8461. Byrd, J.C., Lawrence, D., Arthur, D.C., Pettenati, M.J., Tantravahi, R., Qumsiyeh, M., Stamberg, J., Davey, F.R., Schiffer, C.A., Bloomfield, C.D. Clin. Cancer Res. (1998) [Pubmed]
  19. Dermal fibroblasts from Down's syndrome patients share a cycloheximide-induced deficiency in collagen adhesion responses with normal aging cells. Flickinger, K.S., Culp, L.A. Exp. Cell Res. (1990) [Pubmed]
  20. Hydroquinone, a benzene metabolite, increases the level of aneusomy of chromosomes 7 and 8 in human CD34-positive blood progenitor cells. Smith, M.T., Zhang, L., Jeng, M., Wang, Y., Guo, W., Duramad, P., Hubbard, A.E., Hofstadler, G., Holland, N.T. Carcinogenesis (2000) [Pubmed]
  21. Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Lau, A.W., Brown, C.J., Peñaherrera, M., Langlois, S., Kalousek, D.K., Robinson, W.P. Am. J. Hum. Genet. (1997) [Pubmed]
  22. Maternal folate polymorphisms and the etiology of human nondisjunction. Hassold, T.J., Burrage, L.C., Chan, E.R., Judis, L.M., Schwartz, S., James, S.J., Jacobs, P.A., Thomas, N.S. Am. J. Hum. Genet. (2001) [Pubmed]
  23. Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. Zittergruen, M.M., Murray, J.C., Lauer, R.M., Burns, T.L., Sheffield, V.C. Circulation (1995) [Pubmed]
  24. Automated array-based genomic profiling in chronic lymphocytic leukemia: development of a clinical tool and discovery of recurrent genomic alterations. Schwaenen, C., Nessling, M., Wessendorf, S., Salvi, T., Wrobel, G., Radlwimmer, B., Kestler, H.A., Haslinger, C., Stilgenbauer, S., Döhner, H., Bentz, M., Lichter, P. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  25. A common molecular basis for rearrangement disorders on chromosome 22q11. Edelmann, L., Pandita, R.K., Spiteri, E., Funke, B., Goldberg, R., Palanisamy, N., Chaganti, R.S., Magenis, E., Shprintzen, R.J., Morrow, B.E. Hum. Mol. Genet. (1999) [Pubmed]
  26. Place of amniotic fluid AFP in prenatal diagnosis of trisomies. Hullin, D.A., Gregory, P.J., Dyer, C.L., Dew, J.O. Lancet (1985) [Pubmed]
  27. Trisomy 7 and trisomy 10 characterize subpopulations of tumor-infiltrating lymphocytes in kidney tumors and in the surrounding kidney tissue. Dal Cin, P., Aly, M.S., Delabie, J., Ceuppens, J.L., Van Gool, S., Van Damme, B., Baert, L., Van Poppel, H., Van den Berghe, H. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  28. Trisomy 4 identifies a subset of acute nonlymphocytic leukemias. Mecucci, C., Van Orshoven, A., Tricot, G., Michaux, J.L., Delannoy, A., Van den Berghe, H. Blood (1986) [Pubmed]
  29. Biallelic mutation of SOCS-1 impairs JAK2 degradation and sustains phospho-JAK2 action in the MedB-1 mediastinal lymphoma line. Melzner, I., Bucur, A.J., Brüderlein, S., Dorsch, K., Hasel, C., Barth, T.F., Leithäuser, F., Möller, P. Blood (2005) [Pubmed]
  30. Red blood cell glucose metabolism in trisomy 10p: possible role of hexokinase in the erythrocyte. Magnani, M., Stocchi, V., Piatti, E., Dachà, M., Dallapiccola, B., Fornaini, G. Blood (1983) [Pubmed]
  31. Copper/zinc superoxide dismutase activity in trisomy 21 by translocation. Garber, P., Sinet, P.M., Jerome, H., Lejeune, J. Lancet (1979) [Pubmed]
  32. Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia. Maciejewski, J.P., Risitano, A., Sloand, E.M., Nunez, O., Young, N.S. Blood (2002) [Pubmed]
  33. Overexpression and amplification of c-myc in the Syrian hamster kidney during estrogen carcinogenesis: a probable critical role in neoplastic transformation. Li, J.J., Hou, X., Banerjee, S.K., Liao, D.Z., Maggouta, F., Norris, J.S., Li, S.A. Cancer Res. (1999) [Pubmed]
  34. Clinical cardiotoxicity following anthracycline treatment for childhood cancer: the Pediatric Oncology Group experience. Krischer, J.P., Epstein, S., Cuthbertson, D.D., Goorin, A.M., Epstein, M.L., Lipshultz, S.E. J. Clin. Oncol. (1997) [Pubmed]
  35. Proliferative kinetics and chromosome damage in trisomy 21 lymphocyte cultures exposed to gamma-rays and bleomycin. Morimoto, K., Kaneko, T., Iijima, K., Koizumi, A. Cancer Res. (1984) [Pubmed]
  36. Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21. Blouin, J.L., Rahmani, Z., Chettouh, Z., Prieur, M., Fermanian, J., Poissonnier, M., Leonard, C., Nicole, A., Mattei, J.F., Sinet, P.M. Am. J. Hum. Genet. (1990) [Pubmed]
  37. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Rainis, L., Bercovich, D., Strehl, S., Teigler-Schlegel, A., Stark, B., Trka, J., Amariglio, N., Biondi, A., Muler, I., Rechavi, G., Kempski, H., Haas, O.A., Izraeli, S. Blood (2003) [Pubmed]
  38. Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia. Buhl, A.M., Jurlander, J., Jørgensen, F.S., Ottesen, A.M., Cowland, J.B., Gjerdrum, L.M., Hansen, B.V., Leffers, H. Blood (2006) [Pubmed]
  39. Neuroanatomical localization and quantification of amyloid precursor protein mRNA by in situ hybridization in the brains of normal, aneuploid, and lesioned mice. Bendotti, C., Forloni, G.L., Morgan, R.A., O'Hara, B.F., Oster-Granite, M.L., Reeves, R.H., Gearhart, J.D., Coyle, J.T. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  40. alpha 1-Antitrypsin quantitative and qualitative (Pi phenotyping) characterization in Down syndrome subjects and in their parents. Guanti, G., Di Loreto, M. Am. J. Hum. Genet. (1980) [Pubmed]
  41. Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. de la Chapelle, A., Vuopio, P., Icén, A. Blood (1976) [Pubmed]
  42. Mouse trisomy 16 as an animal model of human trisomy 21 (Down syndrome): production of viable trisomy 16 diploid mouse chimeras. Cox, D.R., Smith, S.A., Epstein, L.B., Epstein, C.J. Dev. Biol. (1984) [Pubmed]
  43. Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-). Penehaszadeh, V.B., Coco, R. J. Med. Genet. (1975) [Pubmed]
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