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Ring Autosomes: Some Unexpected Findings Cover

References

  1. 1. Kosztolányi G. The genetics and clinical characteristics of constitutional ring chromosomes. J Assoc Genet Technol. 2009; 35(2): 44-48.
  2. 2. Schinzel, A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: de Gruyter, 1983.10.1515/9783112329047
  3. 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
  4. 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
  5. 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
  6. 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-#
  7. 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
  8. 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
  9. 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
  10. 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
  11. 11. Gardner RGM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 3rd ed. New York: Oxford University Press; 2004.
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 20. Koç A, Karaer K, Ergün MA. A case with a ring chromosome 22. Turk J Pediatr. 2008; 50(2): 193-196.
  21. 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
  22. 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.
  23. 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
  24. 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
  25. 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.
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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.
  31. 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
  32. 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
  33. 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.
  34. 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.
  35. 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.
  36. 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
  37. 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
  38. 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
  39. 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.
  40. 40. de Grouchy J, Turleau C. Syndrome r(21). Clinical Atlas of Human Chromosomes. New York: John Wiley and Sons. 1984: 350-355.
Language: English
Page range: 35 - 46
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 L. Caba, C. Rusu, V. Plăiaşu, G. Gug, M. Grămescu, C. Bujoran, D. Ochiană, M. Voloşciuc, R. Popescu, E. Braha, M. Pânzaru, L. Butnariu, A. Sireteanu, M. Covic, E.V. Gorduza, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.