CLINICAL IMPACT OF PROXIMAL AUTOSOMAL IMBALANCES
Hamid AB, Weise A, Voigt M, Bucksch M, Kosyakova N, Liehr T,* Klein E
*Corresponding Author: Dr. Thomas Liehr, Universitätsklinikum Jena, Institut für Humangenetik, Kollegiengasse 10, D-07743 Jena, Germany; Tel.: +49-3641-935533; Fax. ++49-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 15

REFERENCES

1. Barber JC. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet. 2005; 42(8): 609-629. 2. The chromosome anomaly collection: http://www. ngrl.org.uk/Wessex/collection/ubca_chart.htm. (Accessed June 01 2011). 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. 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. 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. 6. sSMC homepage: http://www.fish.uniklinikumjena. de/sSMC.html. (Accessed December 12, 2011). 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. 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. 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. Roa BB, Lupski JR. Molecular genetics of Charcot- Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22(1): 117-152. 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). 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. 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. 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). 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). 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). 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 27. McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet. 2002; 70(5): 1077- 1088. 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.



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