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Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach Cover

Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach

Open Access
|Oct 2007

References

  1. Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007; 19(5): 719-731.10.3892/ijmm.19.5.719
  2. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004; 107(1-2): 55-67.10.1159/000079572
  3. Paoloni-Giacobino A, Morris MA, Dahoun SP. Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome. Prenat Diagn 1998; 18(7): 751-752.10.1002/(SICI)1097-0223(199807)18:7<;751::AID-PD312>3.0.CO;2-5
  4. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49(5): 995-1013.
  5. Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 1998; 75(4): 367-381.
  6. Graf MD, Christ L, Mascarello JT, Mowrey P, Pettenati M, Stetten G, Storto P, Surti U, Van Dyke DL, Vance GH, Wolff D, Schwartz S. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J Med Genet 2006; 43(8): 660-664.10.1136/jmg.2005.037887
  7. Bröndum-Nielsen K, Mikkelsen M.; A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. Prenat Diagn 1995; 15(7): 615-619.
  8. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 2001; 99(3): 223-233.10.1002/1096-8628(2001)9999:9999<;::AID-AJMG1146>3.0.CO;2-W
  9. Liehr, T. sSMC homepage ( http://www.markerchromosomes.ag.vu
  10. Choo KH. Centromere DNA dynamics: latent centromeres and neocentromere formation. Am J Hum Genet 1997; 61(6): 1225-1233.10.1086/301657
  11. Starke H, Raida M, Trifonov V, Clement JH, Loncarevic IF, Heller A, Bleck C, Nietzel A, Rubtsov N, Claussen U, Liehr T. Molecular cytogenetic characterisation of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia. Br J Haemato 2001; 113(2): 435-438.10.1046/j.1365-2141.2001.02787.x
  12. Speicher MR, Gwyn Ballard S, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996; 12(4): 368-375.10.1038/ng0496-368
  13. Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T. Multicolor spectral karyotyping of human chromosomes. Science 1996; 273(5274): 494-497.10.1126/science.273.5274.494
  14. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T. A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 2001; 108(3): 199-204.10.1007/s004390100459
  15. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 2003; 114(1): 51-67.10.1007/s00439-003-1016-313680362
  16. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H. Small supernumerary marker chromosomes—progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006; 112(1-2): 23-34.10.1159/00008751016276087
  17. Bloom SE, Goodpasture C. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet 1975; 34(2): 199-206.
  18. Kotzot D. Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation. Eur J Hum Genet 2004; 12(5): 343-346.10.1038/sj.ejhg.520115814747835
  19. Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 2001; 21(10): 860-863.10.1002/pd.15811746130
  20. Nietzel A, Albrecht B, Starke H, Heller A, Gillessen-Kaesbach G, Claussen U, Liehr T. Partial hexasomy 15pter→15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report. J Med Genet 2003; 40(3): e28.10.1136/jmg.40.3.e28173538112624157
  21. Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet 2002; 70(1): 224-229.10.1086/33845538489011727200
  22. Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch JR. Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am J Med Genet A 2006; 140(1): 46-51.10.1002/ajmg.a.3104816333826
Language: English
Page range: 33 - 37
Published on: Oct 10, 2007
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2007 T Liehr, V Trifonov, A Polityko, L Brecevic, K Mrasek, A Weise, E Ewers, D Reich, I Iourov, H Mkrtchyan, M Manvelyan, N Kosyakova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 10 (2007): Issue 1 (April 2007)