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Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18 Cover

Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18

By: S Niksic,  V Deretic,  G Pilic,  E Ewers,  M Merkas,  M Ziegler and  T Liehr  
Open Access
|Aug 2010

References

  1. Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM. Down syndrome-recent progress and future prospects. Hum Mol Genet 2009; 18(R1): R75-R83.10.1093/hmg/ddp010265794319297404
  2. Hultén MA, Patel SD, Tankimanova M, Westgren M, Papadogiannakis N, Jonsson AM, Iwarsson E. On the origin of trisomy 21 Down syndrome. Mol Cytogenet 2008; 1: 21.10.1186/1755-8166-1-21256495718801168
  3. Migliore L, Migheli F, Coppedè F. Susceptibility to aneuploidy in young mothers of Down syndrome children. TheScientificWorldJournal 2009; 9: 1052-1060 (see http://thescientificworld.co.uk/headeradmin/upload/2009.06.122.pdf). http://thescientificworld.co.uk/headeradmin/upload/2009.06.122.pdf10.1100/tsw.2009.122582314519802501
  4. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004; 107(1-2): 55-67.10.1159/00007957215305057
  5. Liehr T. Small supernumerary marker chromosome homepage. http://www.med.uni-jena.de/fish/sSMC/00START.htm
  6. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Mol Cytogenet 2008; 1: 6.10.1186/1755-8166-1-6237588118471318
  7. Liehr T, Starke H, Weise A, Lehrer H, Claussen U. Multicolor FISH probe sets and their applications. Histol Histopathol 2004; 19(1): 229-237.
  8. 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
  9. Jeanty C, Turner C. Prenatal diagnosis of double aneuploidy, 48, XXY, +21, and review of the literature. J Ultrasound Med 2009; 28(5): 673-681.10.7863/jum.2009.28.5.67319389908
  10. Kovaleva NV, Mutton DE. Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. Am J Med Genet A 2005; 134A(1): 24-32.10.1002/ajmg.a.3030615704133
  11. Mabboux P, Brisset S, Aboura A, Pineau D, Koubi V, Joannidis S, Labrune P, Tachdjian G. Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation. Am J Med Genet A 2007; 143A(7): 727-733.10.1002/ajmg.a.3163317330860
  12. Rodriguez L, Liehr T, Mrasek K, Mansilla E, Martinez-Fernandez ML, Garcia A, Martinez-Frias ML. Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review. Am J Med Genet A 2007; 143A(22): 2727-2732.10.1002/ajmg.a.3200317937429
  13. Minelli E, Müller-Navia J, Mazzola D, Mny P, Bronz L, Uhr M. Characterization of a marker chromosome with FISH and microdissection in prenatal diagnosis. Ann Genet 2003; 46(1): 325.
  14. Mrasek K, Heller A, Rubtsov N, Trifonov V, Starke H, Claussen U, Liehr T. Detailed Hylobates lar karyotype defined by 25-color FISH and multicolor banding. Int J Mol Med 2003; 12(2): 139-146.10.3892/ijmm.12.2.139
Language: English
Page range: 55 - 58
Published on: Aug 25, 2010
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2010 S Niksic, V Deretic, G Pilic, E Ewers, M Merkas, M Ziegler, T Liehr, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 13 (2010): Issue 1 (June 2010)