TRISOMY 21 WITH A SMALL SUPERNUMERARY MARKER CHROMOSOME DERIVED FROM CHROMOSOMES 13/21 AND 18
Niksic SB1, Deretic VI2, Pilic GR1, Ewers E3, Merkas M3, Ziegler M3, Liehr T3,*
*Corresponding Author: Dr. Thomas Liehr, Institut für Humangenetik, Postfach, D-07740 Jena, Germany; Tel.: +49-3641-935-533; Fax: +49-3641-935-582; E-mail: i8lith@mti.uni-jena.de
page: 57

REFERENCES

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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.

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).

4. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004; 107(1-2): 55-67.

5. Liehr T. Small supernumerary marker chromosome homepage. http://www.med.uni-jena.de/fish/sSMC/ 00START.htm. accessed on 7 November 2009.

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.

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.

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. 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.

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.

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.

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.





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