Human Ring Chromosomes – New Insights for their Clinical Significance

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): 171.10.1186/1471-2350-12-171Search in Google Scholar

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): 398-410.10.1016/j.ajhg.2007.10.013Search in Google Scholar

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): 226-239.10.1002/1096-8628(20010701)101:3<226::AID-AJMG1349>3.0.CO;2-#Search in Google Scholar

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): 932-938.10.1136/jmg.35.11.932Search in Google Scholar

5. Liehr T. Small supernumerary marker chromosomes (http://www.fish.uniklinikum-jena.de/sSMC.html [accessed 28/06/2012]).Search in Google Scholar

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): 23-34.10.1159/000087510Search in Google Scholar

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): 28-33.10.1159/000076285Search in Google Scholar

8. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004; 107(1-2): 55-67.10.1159/000079572Search in Google Scholar

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): 335-339.10.3892/ijmm.9.4.335Search in Google Scholar

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): 487-493.10.1369/jhc.2008.950550Search in Google Scholar

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): 43-50.10.1159/000064043Search in Google Scholar

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): 308-311.10.1002/ajmg.13205603197778597Search in Google Scholar

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): 2782-2787.10.1002/ajmg.a.3306919921639Search in Google Scholar

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.Search in Google Scholar

15. Gunnarsson C, Graffmann B, Jonasson J. Chromosome r(10)(p15.3q26.12) in a newborn child: case report. Mol Cytogenet. 2009; 2(1): 25.10.1186/1755-8166-2-25279427619968867Search in Google Scholar

16. Martin NJ, Harvey PJ, Pearn JH. The ring chromosome 13 syndrome. Hum Genet. 1982; 61(1): 18-23.10.1007/BF002913247129419Search in Google Scholar

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): 222-227.10.1684/epd.2010.032420643614Search in Google Scholar

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): 201-210.10.1597/08-262.1Search in Google Scholar

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): 1123-1128.10.1369/jhc.7A7244.2007395753217595336Search in Google Scholar

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.Search in Google Scholar

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-e20.10.1016/j.jpedsurg.2008.06.04218970914Search in Google Scholar

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.Search in Google Scholar

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): 353-362.10.1159/00011176718391547Search in Google Scholar

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): 174-179.10.1007/BF005910823817812Search in Google Scholar

25. Cote GB, Katsantoni A, Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet. 1981; 24(4): 231-235. Search in Google Scholar