HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE
Guilherme RS1,2, Klein E1, Hamid AB1, Bhatt S1, Volleth M3, Polityko A4, Kulpanovich A5, Dufke A6, Albrecht B7, Morlot S8, Brecevic L9, Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*
*Corresponding Author: Thomas Liehr, Institut für Humangenetik, Kollegiengasse 10, Postfach D-07740 Jena, Germany; Tel.: +49-3641-935533; Fax: +49-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 13

REFERENCES

1. Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, et al. Mechanisms of ring chromosome formation; ring instability and clinical consequences. BMC Med Genet. 2011; 12(1): 171. 2. Baldwin EL, May LF, Justice AN, Martin CL, Led-better 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. 3. Stankiewicz P, Brozek I, Helias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, et al. Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet. 2001; 101(3): 226-239. 4. Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, et al. Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study. J Med Genet. 1998; 35(11): 932-938. 5. Liehr T. Small supernumerary marker chromosomes (http://www.fish.uniklinikum-jena.de/ sSMC.html [accessed 28/06/2012]). 6. Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, et al. Small supernumerary marker chromosomes–progress towards a genotype-phenotype correlation. Cytogenet Genome Res. 2006; 112(1-2): 23-34. 7. Tönnies H, Hennies HC, Spohr HL, Neitzel H. Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. Cytogenet Genome Res. 2003; 103 (1- 2): 28-33. 8. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004; 107(1-2): 55-67. 9. Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, et al. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med. 2002; 9(4): 335-339. 10. Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, et al. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem. 2008; 56(5): 487-493. 11. Liehr T, Weise A, Heller A, Starke H, Mrasek K, Kuechler A, et al. Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific micro dissection DNA libraries. Cytogenet Genome Res. 2002; 97(1-2): 43-50. 12. Lurie IW. Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33). Am J Med Genet. 1995; 56(3): 308-311. 13. Soysal Y, Balci S, Hekimler K, Liehr T, Ewers E, Schoumans J, et al. Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation; cortical dysgenesis; and epilepsy. Am J Med Genet A. 2009; 149A(12): 2782-2787. 14. Chen CP, Lin SP, Su YN, Chern SR, Tsai EJ, Wu PC, et al. Mosaic ring chromosome 4 in a child with mild dysmorphisms; congenital heart defects and developmental delay. Genet Couns. 2011; 22(3): 321-326. 15. Gunnarsson C, Graffmann B, Jonasson J. Chromosome r(10)(p15.3q26.12) in a newborn child: case report. Mol Cytogenet. 2009; 2(1): 25. 16. Martin NJ, Harvey PJ, Pearn JH. The ring chromosome 13 syndrome. Hum Genet. 1982; 61(1): 18-23. 17. Giovannini S, Frattini D, Scarano A, Fusco C, Bertani G, Della Giustina E, et al. Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syn-drome. Epileptic Disord. 2010; 12(3): 222-227. 18. Ono T, Okuma M, Hamada T, Motohashi N, Moriyama K. A case of ring chromosome 18 syndrome treated with a combinedorthodonticprosthodontic approach. Cleft Palate Craniofac J. 2010; 47(2): 201-210. 19. Carreira IM, Mascarenhas A, Matoso E, Couceiro AB, Ramos L, Dufke A, et al. Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18. J Histochem Cytochem. 2007; 55(11): 1123- 1128. 20. Chen CP, Lin YH, Chou SY, Su YN, Chern SR, Chen YT, et al. Mosaic ring chromosome 21; monosomy 21; and isodicentric ring chromosome 21: prenatal diagnosis; molecular cytogenetic characterization; and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3. Taiwan J Obstet Gynecol. 2012; 51(1): 71-76. 21. Capaccio P, Clemente IA, Marchisio P, Selicorni A, Esposito S, Pignataro L. Videoendoscopic rehabilitation of iatrogenous Stensen-ductacquired atresia in a patient with ring chromosome 21 syndrome and drooling. J Pediatr Surg. 2008; 43(11): e17-e20. 22. Rajesh H, Freckmann ML, Chapman M. Azoospermia and paternal autosomal ring chromosomes: case report and literature review. Reprod Biomed. Online 2011; 23: 466-470. 23. Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, et al. Small supernumerary marker chromosomes (sSMC) in patients with a 45;X/46;X;+mar karyotype – 17 new cases and a review of the literature. Sex Dev. 2007; 1(6): 353-362. 24. Kosztolányi G. Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring auto-some. Hum Genet. 1987; 75(2): 174-179. 25. Cote GB, Katsantoni A, Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet. 1981; 24(4): 231-235.



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