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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Monosomy


Psychiatry related information on Monosomy


High impact information on Monosomy

  • Individuals with Turner syndrome have a spectrum of anatomical, physiological and behavioral phenotypes with expressivity dependent on the extent of monosomy and the parental origin of the single X [8].
  • These findings are consistent with the hypothesis that RPS4 deficiency has a role in Turner syndrome, a complex human phenotype associated with monosomy X [9].
  • In view of the monosomy of the Y chromosome in mammalian species, Y-linked RFLP's may prove to be more useful than autosomal or X-linked markers in estimating genetic distances within and between species [10].
  • Early-passage clone 7 cells exhibited chromosome 5 monosomy, while late-passage cells contained one normal chromosome 5 and a derivative (5q12q) [11].
  • We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11 [12].

Chemical compound and disease context of Monosomy


Biological context of Monosomy


Anatomical context of Monosomy

  • Association of rat p15INK4B/p16INK4 deletions with monosomy 5 in kidney epithelial cell lines but not primary renal tumors [20].
  • These findings suggest that p53 mutations are relatively rare in B-cell CLL, and largely predominate or may even be restricted to patients with 17p monosomy (who constitute about 5% of all B-cell CLL patients in large published series) [21].
  • The DiGeorge anomaly (DGA), originally considered a clinical paradigm for isolated thymus deficiency, has now been redefined as a member of a group of disorders that share in common a chromosome deletion, which results in monosomy 22q11 (CATCH-22 or DiGeorge/velocardiofacial [VCFS] syndrome) [22].
  • CONCLUSION: Evidence of loss of heterozygosity for several genes located on human chromosome 11p has been found in a series of parathyroid glands from several patients with I degree and II degree uraemic HPTH, corresponding to monosomy of chromosome 11 in some cases [23].
  • The number of abnormal cells of B (CD19(+)) and T (CD3(+)) cells was below the cut-off value, but approximately 60% of the NK cells (CD3-CD56(+)) contained monosomy 7 in three of the patients [24].

Associations of Monosomy with chemical compounds

  • A majority of the bromodeoxyuridine-positive cells also carried the monosomy 9 chromosome abnormality [25].
  • By utilizing a digoxigenin-labeled chromosome 7 probe, we demonstrate that, in patients with monosomy 7, both erythroid and myelomonocytic progenitors can be karyotypically aberrant [26].
  • Recovery of cells with a normal karyotype in a refractory anaemia patient with monosomy 7-positive cells after long-term administration of cyclosporin A [27].
  • We examined whether the chromosomal imbalance inherent in an XO constitution in mice is more susceptible to teratogenic influence of biotin deficiency using a newly established mouse colony with pure X monosomy [28].
  • CONCLUSION: CISH can successfully identify monosomy 3 in archival glutaraldehyde or formalin fixed, paraffin embedded tissue sections [29].

Gene context of Monosomy

  • The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B [30].
  • Deletion of genes from the chromosome 21 region between APP and SOD1 is a potential cause of some of the major phenotypic features of monosomy 21 patients [31].
  • The contribution of the BACH1 gene to the pathophysiology of trisomy or monosomy 21 is unknown [32].
  • In daughter and mother, the monosomy of region Xp22.1-3 is compatible with fertility and does not cause any other somatic stigmata of the Turner syndrome or Léri-Weill syndrome, except for short stature due to monosomy of the SHOX gene [33].
  • Among the four cases, three presented monosomy of the RB-1 locus and one monoallelic deletion of the TP53 gene [34].

Analytical, diagnostic and therapeutic context of Monosomy


  1. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Carey, A.H., Kelly, D., Halford, S., Wadey, R., Wilson, D., Goodship, J., Burn, J., Paul, T., Sharkey, A., Dumanski, J. Am. J. Hum. Genet. (1992) [Pubmed]
  2. Genomic abnormalities in monoclonal gammopathy of undetermined significance. Fonseca, R., Bailey, R.J., Ahmann, G.J., Rajkumar, S.V., Hoyer, J.D., Lust, J.A., Kyle, R.A., Gertz, M.A., Greipp, P.R., Dewald, G.W. Blood (2002) [Pubmed]
  3. Impaired insulin secretion in the Turner metabolic syndrome. Bakalov, V.K., Cooley, M.M., Quon, M.J., Luo, M.L., Yanovski, J.A., Nelson, L.M., Sullivan, G., Bondy, C.A. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  4. Untreated essential thrombocythemia evolving to biphenotypic leukemia, Philadelphia chromosome positive with monosomy 7: response to imatinib and reduced-intensity allogeneic stem cell transplant. Martin, S.E., DellaValla, J. Leukemia (2005) [Pubmed]
  5. MDR1 expression in poor-risk acute myeloid leukemia with partial or complete monosomy 7. van den Heuvel-Eibrink, M.M., Wiemer, E.A., de Boevere, M.J., Slater, R.M., Smit, E.M., van Noesel, M.M., van der Holt, B., Schoester, M., Pieters, R., Sonneveld, P. Leukemia (2001) [Pubmed]
  6. Monosomy 10qter. Turleau, C., de Grouchy, J., Ponsot, G., Bouygues, D. Hum. Genet. (1979) [Pubmed]
  7. Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. Donnelly, S.L., Wolpert, C.M., Menold, M.M., Bass, M.P., Gilbert, J.R., Cuccaro, M.L., Delong, G.R., Pericak-Vance, M.A. Am. J. Med. Genet. (2000) [Pubmed]
  8. Identification of a cluster of X-linked imprinted genes in mice. Raefski, A.S., O'Neill, M.J. Nat. Genet. (2005) [Pubmed]
  9. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Watanabe, M., Zinn, A.R., Page, D.C., Nishimoto, T. Nat. Genet. (1993) [Pubmed]
  10. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Casanova, M., Leroy, P., Boucekkine, C., Weissenbach, J., Bishop, C., Fellous, M., Purrello, M., Fiori, G., Siniscalco, M. Science (1985) [Pubmed]
  11. Spontaneous transformation of rat ovarian surface epithelial cells: association with cytogenetic changes and implications of repeated ovulation in the etiology of ovarian cancer. Godwin, A.K., Testa, J.R., Handel, L.M., Liu, Z., Vanderveer, L.A., Tracey, P.A., Hamilton, T.C. J. Natl. Cancer Inst. (1992) [Pubmed]
  12. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Scambler, P.J., Kelly, D., Lindsay, E., Williamson, R., Goldberg, R., Shprintzen, R., Wilson, D.I., Goodship, J.A., Cross, I.E., Burn, J. Lancet (1992) [Pubmed]
  13. Myelodysplastic syndrome with monosomy 5 and/or 7 following therapy with 2-chloro-2'-deoxyadenosine. Van Den Neste, E., Louviaux, I., Michaux, J.L., Delannoy, A., Michaux, L., Hagemeijer, A., Scheiff, J.M., Bosly, A., Straetmans, N., Ferrant, A. Br. J. Haematol. (1999) [Pubmed]
  14. Extramedullary relapse despite graft-versus-leukemia effect after bone marrow transplantation in a girl with juvenile myelomonocytic leukemia. Kressler, E.J., Haas, O.A., König, M., Mann, G., Mayer, H., Peters, C., Gadner, H., Panzer-Grümayer, E.R. Leuk. Lymphoma (1999) [Pubmed]
  15. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Ellison, J.W., Wardak, Z., Young, M.F., Gehron Robey, P., Laig-Webster, M., Chiong, W. Hum. Mol. Genet. (1997) [Pubmed]
  16. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. Kosho, T., Muroya, K., Nagai, T., Fujimoto, M., Yokoya, S., Sakamoto, H., Hirano, T., Terasaki, H., Ohashi, H., Nishimura, G., Sato, S., Matsuo, N., Ogata, T. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  17. Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase. Minelli, A., Piantanida, M., Maserati, E., Campagnoli, E., Pasquali, F., Danesino, C. Genes Chromosomes Cancer (1990) [Pubmed]
  18. An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia. Germeshausen, M., Schulze, H., Kratz, C., Wilkens, L., Repp, R., Shannon, K., Welte, K., Ballmaier, M. Leukemia (2005) [Pubmed]
  19. Interphase cytogenetics of brain tumors. Arnoldus, E.P., Noordermeer, I.A., Peters, A.C., Voormolen, J.H., Bots, G.T., Raap, A.K., van der Ploeg, M. Genes Chromosomes Cancer (1991) [Pubmed]
  20. Association of rat p15INK4B/p16INK4 deletions with monosomy 5 in kidney epithelial cell lines but not primary renal tumors. Knapek, D.F., Serrano, M., Beach, D., Trono, D., Walker, C.L. Cancer Res. (1995) [Pubmed]
  21. Mutations of the p53 gene in B-cell chronic lymphocytic leukemia: a report on 39 cases with cytogenetic analysis. Fenaux, P., Preudhomme, C., Laï, J.L., Quiquandon, I., Jonveaux, P., Vanrumbeke, M., Sartiaux, C., Morel, P., Loucheux-Lefebvre, M.H., Bauters, F. Leukemia (1992) [Pubmed]
  22. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). Hong, R. Semin. Hematol. (1998) [Pubmed]
  23. Structural analysis of gene marker loci on chromosomes 10 and 11 in primary and secondary uraemic hyperparathyroidism. Inagaki, C., Dousseau, M., Pacher, N., Sarfati, E., Drüeke, T.B., Gogusev, J. Nephrol. Dial. Transplant. (1998) [Pubmed]
  24. Involvement of natural killer cells in patients with myelodysplastic syndrome carrying monosomy 7 revealed by the application of fluorescence in situ hybridization to cells collected by means of fluorescence-activated cell sorting. Miura, I., Kobayashi, Y., Takahashi, N., Saitoh, K., Miura, A.B. Br. J. Haematol. (2000) [Pubmed]
  25. Simultaneous detection of fluorescent in situ hybridization and in vivo incorporated BrdU in a human bladder tumour. Van Dekken, H., Schervish, E.W., Pizzolo, J.G., Fair, W.R., Melamed, M.R. J. Pathol. (1991) [Pubmed]
  26. DNA in situ hybridization of individual colonies to determine lineage derivation in leukemia. Kurzrock, R., Talpaz, M., Beran, M., Harris, D., Estrov, Z. Leukemia (1998) [Pubmed]
  27. Recovery of cells with a normal karyotype in a refractory anaemia patient with monosomy 7-positive cells after long-term administration of cyclosporin A. Hirayama, Y., Sakamaki, S., Tsuji, Y., Sagawa, T., Matsunaga, T., Kato, J., Niitsu, Y. Br. J. Haematol. (2003) [Pubmed]
  28. Teratogen susceptibility of XO mothers and XO embryos in mice. Endo, A., Watanabe, T. Teratology (1989) [Pubmed]
  29. Identification of monosomy 3 in choroidal melanoma by chromosome in situ hybridisation. Sandinha, M.T., Farquharson, M.A., Roberts, F. The British journal of ophthalmology. (2004) [Pubmed]
  30. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. Pangalos, C., Théophile, D., Sinet, P.M., Marks, A., Stamboulieh-Abazis, D., Chettouh, Z., Prieur, M., Verellen, C., Rethoré, M.O., Lejeune, J. Am. J. Hum. Genet. (1992) [Pubmed]
  31. High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1. Orti, R., Mégarbane, A., Maunoury, C., Van Broeckhoven, C., Sinet, P.M., Delabar, J.M. Genomics (1997) [Pubmed]
  32. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1. Blouin, J.L., Duriaux Saïl, G., Guipponi, M., Rossier, C., Pappasavas, M.P., Antonarakis, S.E. Hum. Genet. (1998) [Pubmed]
  33. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26). Reinehr, T., Jauch, A., Zoll, B., Engel, U., Bartels, I., Andler, W. Am. J. Med. Genet. (2001) [Pubmed]
  34. Cytogenetic and fluorescence in situ hybridization studies in four cases of plasma cell leukemia. Lloveras, E., Solé, F., Espinet, B., Besses, C., Asensio, A., Abella, E., Woessner, S., Florensa, L. Cancer Genet. Cytogenet. (2000) [Pubmed]
  35. Fetal diagnosis of monosomy X (Turner syndrome) with methylation-specific PCR. Pena, S.D., Sturzeneker, R. Prenat. Diagn. (2003) [Pubmed]
  36. Masked MLL gene rearrangement was disclosed in the clinical course and sequential development of chromosome abnormality in a patient with therapy related acute myelogenous leukemia. Hashimoto, S., Toba, K., Izumi, N., Sato, N., Takahashi, H., Ozawa, T., Moriyama, M., Aoki, S., Furukawa, T., Narita, M., Takahashi, M., Aizawa, Y. Leuk. Res. (2003) [Pubmed]
  37. Cytogenetic and fluorescence in situ hybridization studies in 60 patients with multiple myeloma and plasma cell leukemia. Lloveras, E., Granada, I., Zamora, L., Espinet, B., Florensa, L., Besses, C., Xandri, M., Pérez-Vila, M.E., Millà, F., Woessner, S., Solé, F. Cancer Genet. Cytogenet. (2004) [Pubmed]
  38. Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia. Chen, C.P., Devriendt, K., Lee, C.C., Chen, W.L., Wang, W., Wang, T.Y. Prenat. Diagn. (1999) [Pubmed]
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