[1. Kosztolányi G. The genetics and clinical characteristics of constitutional ring chromosomes. J Assoc Genet Technol. 2009; 35(2): 44-48.]Search in Google Scholar
[2. Schinzel, A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: de Gruyter, 1983.10.1515/9783112329047]Search in Google Scholar
[3. Kosztolányi G, Méhes K, Hook EB. Inherited ring chromosomes: an analysis of published cases. Hum Genet. 1991; 87(3): 320-324.10.1007/BF00200912]Search in Google Scholar
[4. Yardin C, Esclaire F, Terro F, Baclet MC, Barthe D, Laroche C. First familial case of ring chromosome 18 and monosomy 18 mosaicism. Am J Med Genet. 2001; 104(3): 257-259.10.1002/ajmg.10059]Search in Google Scholar
[5. Kosztolányi G. Does ‘‘ring syndrome’’ exist? An analysis of 207 case reports on patients with a ring auto-some. Hum Genet. 1987; 75(2): 174-179.10.1007/BF00591082]Search in Google Scholar
[6. Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, et al.. Clinical and molec-ular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet. 2001; 101(3):226-239.10.1002/1096-8628(20010701)101:3<226::AID-AJMG1349>3.0.CO;2-#]Search in Google Scholar
[7. Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, et al. Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22. Am J Med Genet A. 2004; 130A(2): 196-199.10.1002/ajmg.a.30276]Search in Google Scholar
[8. Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, et al. Ring chromosome 15: characterization by array CGH. Hum Genet. 2006; 118(5): 611-617.10.1007/s00439-005-0030-z]Search in Google Scholar
[9. Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, et al. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet. 2008; 45(3):147-154.10.1136/jmg.2007.054007]Search in Google Scholar
[10. Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, et al. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet. 2007; 15(5): 548-555.10.1038/sj.ejhg.5201807]Search in Google Scholar
[11. Gardner RGM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 3rd ed. New York: Oxford University Press; 2004.]Search in Google Scholar
[12. Kellermayer R, Gyarmati J, Czakó M, Tészás A, Masszi G, Ertl T, et al. Mos 46,XX,r(18).ishr(18) (18ptel-, 18qtel-)/46,XX.ish del(18)(18ptel-): an example for successive ring chromosome formation. Am J Med Genet A. 2005; 139A(3): 234-235.10.1002/ajmg.a.31005]Search in Google Scholar
[13. Sodré CP, Guilherme RS, Meloni VF, Brunoni D, Juliano Y, Andrade JA, et al. Ring chromosome instability evaluation in six patients with autosomal rings. Genet Mol Res. 2010; 9(1): 134-143.10.4238/vol9-1gmr70720198569]Search in Google Scholar
[14. Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brøndum-Nielsen K. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A. 2004; 130A(4): 340-344.10.1002/ajmg.a.3003515384084]Search in Google Scholar
[15. Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, et al. Ring chromosome 9 [r(9) (p24q34)]: a report of two cases. Am J Med Genet A. 2005; 138A(3): 229-235.10.1002/ajmg.a.3038216158426]Search in Google Scholar
[16. Hockner M, Utermann B, Erdel M, Fauth C, Uter-mann G, Kotzot D. Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. Am J Med Genet A. 2008; 146A(7): 925-929.10.1002/ajmg.a.3225118302251]Search in Google Scholar
[17. Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, et al. The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A. 2009; 149A(6): 1116-1124.10.1002/ajmg.a.3283119441122]Search in Google Scholar
[18. Speevak MD, Smart C, Unwin L, Bell M, Farrell SA. Molecular characterization of an inherited ring (19) demonstrating ring opening. Am J Med Genet A. 2003; 121A(2): 141-145.10.1002/ajmg.a.2018412910493]Search in Google Scholar
[19. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, et al. Presence of telomeric and sub-telomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet. 1993; 92(1): 23-27.10.1007/BF002161408365723]Search in Google Scholar
[20. Koç A, Karaer K, Ergün MA. A case with a ring chromosome 22. Turk J Pediatr. 2008; 50(2): 193-196.]Search in Google Scholar
[21. Rivera H, Dominguez MG. Variegated aneuploidy and ring chromosome syndromes overlap. Am J Med Genet A. 2010; 152A(1): 228-229.10.1002/ajmg.a.3319520034077]Search in Google Scholar
[22. Shaffer LG, Slovak ML, Campbell LJ. International System of Human Cytogenetic Nomenclature: recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger AG, 2009.]Search in Google Scholar
[23. Miller K, Pabst B, Ritter H, Nürnberg P, Siebert R, Schmidtke J, et al. Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin. Hum Genet. 2003; 112(4): 343-347.10.1007/s00439-002-0885-112574939]Search in Google Scholar
[24. Schlegel Z, Valent A, Hirsch A. Partial mosaic trisomy 5: a new case report with ocular involvement. J Fr Ophtalmol. 2009; 32(8): 533-539.10.1016/j.jfo.2009.06.00419664845]Search in Google Scholar
[25. Gorlin RJ, Cohen MM Jr, Hennekam R. Branchial arch and oral-acral disorders. Syndromes of the Head and Neck, 4th ed. New York: Oxford University Press. 2001: 790-798.]Search in Google Scholar
[26. Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, et al. A family with autosomal dominant oculo-auriculo- vertebral spectrum. Clin Dysmorphol. 2007; 16(1): 1-7.10.1097/MCD.0b013e328010d313]Search in Google Scholar
[27. Choong YF, Watts P, Little E, Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? J AAPOS. 2003; 7(3): 226-227.10.1016/S1091-8531(02)42019-8]Search in Google Scholar
[28. Dyggve H, Mikkelsen M. Partial deletion of the short arms of chormosome of the 4-5 group (Denver). Arch Dis Child. 1965; 40(209): 82-85.10.1136/adc.40.209.82201924614259280]Search in Google Scholar
[29. Ladekarl S. Combination of Goldenhar syndrome with cri-dre-chat syndrome. Acta Ophthalmol (Copenh). 1968; 46(3): 605-610.10.1111/j.1755-3768.1968.tb02857.x4974461]Search in Google Scholar
[30. Neu KW, Friedman JM, Howard-Peebles PN. Hemifacial microsomia in cri du chat (5p-) syndrome. J Craniofac Genet Dev Biol. 1982; 2(4): 295-298.]Search in Google Scholar
[31. Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A. 2008; 146 (14): 1815-1819.10.1002/ajmg.a.3240718553555]Search in Google Scholar
[32. Basinko A, Giovannucci Uzielli ML, Scarselli G, Priolo M, Timpani G, et al. Clinical and molecular cyto-genetic studies in ring chromosome 5: Report of a child with congenital abnormalities. Eur J Med Genet. 2012; 55(2): 112-116.10.1016/j.ejmg.2011.11.00522193390]Search in Google Scholar
[33. Lorentz CP, Jalal SM, Thompson DM, Babovic- Vuksanovic D. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies, Am J Med Genet. 2002; 111(1): 61-67.]Search in Google Scholar
[34. Gorduza E.V, Bujoran C, Pădurariu L, Grămescu M, Ivanov I, Martiniuc V, et al. Presentation of a new case with a mosaic ring chromosome 13: 46,XY,r(13)(p11.2-q34)/45,XY,-13 and a review of literature. RJRD. 2010; 1(1): 17-23.]Search in Google Scholar
[35. Hoo JJ, Stein CK. “Zwilling” versus “Tai Chi” configuration of double-sized ring chromosome. Am J Med Genet A. 2007; 143(8): 903-905.]Search in Google Scholar
[36. Liehr T. 2012. Small supernumerary marker chromosomes. http://www.fish.uniklinikumjena. de/sSMC. html. [accessed 16 July 2012].10.1007/978-3-642-20766-2]Search in Google Scholar
[37. Lo-Castro A, El-Malhany N, Galasso C, Verrotti A, Nardone AM, Postorivo D, et al. De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. Eur J Med Genet. 2011; 54(3): 329-332.10.1016/j.ejmg.2011.02.00421333764]Search in Google Scholar
[38. Feenstra I, Vissers LELM, Orsel M, van Kessel AG, Brunner HG, Veltman JA, et al. Genotypephenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A. 2007; 143A(16): 1858-1867.10.1002/ajmg.a.3185017632778]Search in Google Scholar
[39. McGinniss MJ, Kazazian HH, Stetten G, Petersen MB, Boman H, Engel E, et al. Mechanisms of ring chromosome formation in 11 cases of human chromosome 21. Am J Hum Genet. 1992; 50(1): 15-28.]Search in Google Scholar
[40. de Grouchy J, Turleau C. Syndrome r(21). Clinical Atlas of Human Chromosomes. New York: John Wiley and Sons. 1984: 350-355.]Search in Google Scholar