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Clinical Impact of Proximal Autosomal Imbalances Cover
Open Access
|Apr 2013

References

  1. 1. Barber JC. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet. 2005; 42(8): 609-629.10.1136/jmg.2004.026955173611516061560
  2. 2. The chromosome anomaly collection: http://www. ngrl.org.uk/Wessex/collection/ubca_chart.htm. (Accessed June 01 2011).
  3. 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): 23-34.10.1159/00008751016276087
  4. 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): 102-105.10.1159/00020009419372675
  5. 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.19.5.719
  6. 6. sSMC homepage: http://www.fish.uniklinikumjena. de/sSMC.html. (Accessed December 12, 2011).
  7. 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.21.6.705
  8. 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.13204703238135290
  9. 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.3318520425813
  10. 10. Roa BB, Lupski JR. Molecular genetics of Charcot- Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22(1): 117-152.
  11. 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).10.1186/1755-8166-4-1302498821208402
  12. 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.2007.10.013242731318252220
  13. 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.
  14. 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).10.1186/1755-8166-2-22277918419909521
  15. 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).10.1186/1755-8166-2-1263537119128450
  16. 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).10.1186/1755-8166-1-4237588018471313
  17. 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.2011.01.01121316495
  18. 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): 158-166.10.1159/00009818117317954
  19. 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.
  20. 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.2005.01.00416053909
  21. 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.
  22. 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): 432-439.10.2174/138920210793176029301872421358988
  23. 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.177617546703
  24. 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.
  25. 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.3028120981774
  26. 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.3359720803640
  27. 27. McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet. 2002; 70(5): 1077-1088.10.1086/34036344758611925570
  28. 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.01637-07226844318212052
Language: English
Page range: 15 - 21
Published on: Apr 2, 2013
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2013 A.B. Hamid, A. Weise, M. Voigt, M. Bucksch, N. Kosyakova, T. Liehr, E. Klein, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.