CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMO­SOMES BY A SIMPLE MOLECULAR AND MOLECULAR CYTOGENETICS APPROACH
Liehr T1,*, Trifonov V1,2, Polityko A1,3, Brecevic L1,4, Mrasek K1, Weise A1, Ewers E1, Reich D1, Iourov I1,5, Mkrtchyan H1,6, Manvelyan M1,6, Kosyakova N1,7
*Corresponding Author: Dr. Thomas Liehr, Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany; Tel.: +49-3641-935533; Fax: 0049-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 33

REFERENCES

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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.

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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.

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.

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.

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.

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.

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.

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.

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.




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