Cite

1. Barber JC. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet. 2005; 42(8): 609-629.10.1136/jmg.2004.026955173611516061560Search in Google Scholar

2. The chromosome anomaly collection: http://www. ngrl.org.uk/Wessex/collection/ubca_chart.htm. (Accessed June 01 2011).Search in Google Scholar

3. Liehr T, Mrasek K, Weise A, Duke A, Rodríguez L, Martinez Guardia N, et al. Small supernumerary marker chromosomes - progress towards a genotype-phenotype correlation. Cytogenet Genome Res. 2006; 112(1-2): 23-34.10.1159/00008751016276087Search in Google Scholar

4. Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, et al. 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res. 2009; 124(1): 102-105.10.1159/00020009419372675Search in Google Scholar

5. 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.19.5.719Search in Google Scholar

6. sSMC homepage: http://www.fish.uniklinikumjena. de/sSMC.html. (Accessed December 12, 2011).Search in Google Scholar

7. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, et al. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med. 2008; 21(6): 705-714.10.3892/ijmm.21.6.705Search in Google Scholar

8. Lurie IW. Autosomal imbalance syndromes: genetic interactions and the origin of congenital malformations in aneuploidy syndromes. Am J Med Genet. 1993; 47(3): 410-416.10.1002/ajmg.13204703238135290Search in Google Scholar

9. Berg JS, Potocki L, Bacino CA. Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet. A. 2010; 152A(5): 1066-1078.10.1002/ajmg.a.3318520425813Search in Google Scholar

10. Roa BB, Lupski JR. Molecular genetics of Charcot- Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22(1): 117-152.Search in Google Scholar

11. Manvelyan M, Cremer FW, Lancé J, Kläs R, Kelbova C, Ramel C, et al. New cytogenetically visible copy number variant in region 8q21.2. Mol Cytogenet. 2011; 4: 1 (available from: http://www.molecular cytogenetics. org/ content/pdf/1755-8166-4-1.pdf).10.1186/1755-8166-4-1302498821208402Search in Google Scholar

12. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern geneticcounseling issues. Am J Hum Genet. 2008; 82(2): 398-410.10.1016/j.ajhg.2007.10.013242731318252220Search in Google Scholar

13. Lasan Trcic R, Hitrec V, Letica L, Cuk M, Begovic D. Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization. Croat Med J. 2003; 44(4): 477-479.Search in Google Scholar

14. Sheth, F, Ewers, E, Kosyakova, N, Weise, A, Sheth, J, Desai, M, et al. A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report. Mol Cytogenet. 2009; 2: 22 (available from: http://www. molecularcytogenetics. org/content/pdf/1755-8166-2-22.pdf).10.1186/1755-8166-2-22277918419909521Search in Google Scholar

15. Kitsiou-Tzeli S, Manolakos E, Lagou M, Kontodiou M, Kosyakova N, Ewers E, et al. Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet. 2009; 2: 1 (available from: http://www. molecularcytogenetics. org/content/pdf/1755-8166-2-1.pdf).10.1186/1755-8166-2-1263537119128450Search in Google Scholar

16. Rodríguez L, Liehr T, Martínez-Fernández ML, Lara A, Torres A, Martínez-Frías ML. A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man. Mol Cytogenet. 2008; 1: 4 (available from: http://www.molecular cytogenetics. org/content/pdf/1755-8166-1-4.pdf).10.1186/1755-8166-1-4237588018471313Search in Google Scholar

17. Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, et al. Characterization of sSMC by FISH and molecular techniques. Eur J Med Genet. 2011; 54(3): 247-255.10.1016/j.ejmg.2011.01.01121316495Search in Google Scholar

18. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, et al. Array painting using microdis-sected chromosomes to map chromosomal breakpoints. Cytogenet Genome Res. 2007; 116(3): 158-166.10.1159/00009818117317954Search in Google Scholar

19. Loitzsch A, Bartsch O. Healthy 12-year-old boy with mosaic inv dup(15)(q13). Am J Med Genet. A. 2006; 140(6): 640-643.Search in Google Scholar

20. Liehr, T, Brude, E, Gillessen-Kaesbach, G, König R, Mrasek K, von Eggeling F, et al. Prader-Willi syndrome with a karyotype 47,XY,+min(15) (pter→q11.1:) and maternal UPD 15 - case report plus review of similar cases. Eur J Med Genet. 2005; 48(2): 175-181.10.1016/j.ejmg.2005.01.00416053909Search in Google Scholar

21. Nelle H, Schreyer I, Ewers E, Mrasek K, Kosyakova N, Merkas M, et al. Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis: a case report. Mol Med Report. 2010; 3(4): 571-574.Search in Google Scholar

22. Liehr T, Karamysheva T, Merkas M, Brecevic L, Hamid AB, Ewers E, et al. Somatic mosaicism in cases with small supernumerary marker chromosomes. Curr Genomics. 2010; 11(6): 432-439.10.2174/138920210793176029301872421358988Search in Google Scholar

23. Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, et al. A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1 - evidence for high variability in mosaicism in different tissues of sSMC carriers. Prenat Diagn. 2007; 27(8): 783-785.10.1002/pd.177617546703Search in Google Scholar

24. Liehr T, Wegner R-D, Stumm M, Joksic G, Polityko A, Kosyakova N, et al. Pallister-Killian syndrome. Rare phenotypic features and variable karyotypes. Balkan J Med Genet. 2008; 11(2): 65-67.Search in Google Scholar

25. Battaglia A, Parrini B, Tancredi R. The behavioral phenotype of the idic(15) syndrome. Am J Med Genet. C. Semin Med Genet. 2010; 154C(4): 448-455.10.1002/ajmg.c.3028120981774Search in Google Scholar

26. Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, et al. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet. A. 2010; 152A(9): 2164-2172.10.1002/ajmg.a.3359720803640Search in Google Scholar

27. McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet. 2002; 70(5): 1077-1088.10.1086/34036344758611925570Search in Google Scholar

28. DeBeauchamp JL, Moses A, Noffsinger VJ, Ulrich DL, Job G, Kosinski AM, et al. Chp1-Tas3 interaction is required to recruit RITS to fission yeast centromeres and for maintenance of centromeric heterochromatin. Mol Cell Biol. 2008; 28(7): 2154-2166.10.1128/MCB.01637-07226844318212052Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other