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.



Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006