ring chromosomes

Summary

Summary: Aberrant chromosomes with no ends, i.e., circular.

Top Publications

  1. Zhang H, Xu F, Seashore M, Li P. Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases. Cytogenet Genome Res. 2012;136:180-7 pubmed publisher
    ..A cytogenomic approach is proposed for characterizing the genomic structure and mitotic instability of ring chromosome abnormalities...
  2. Ishmael H, Cataldi D, Begleiter M, Pasztor L, Dasouki M, Butler M. Five new subjects with ring chromosome 22. Clin Genet. 2003;63:410-4 pubmed
    ..Similarly, recessive alleles unmasked by the deletion could also contribute to the phenotype...
  3. Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner R, et al. Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. Am J Med Genet. 2002;108:97-104 pubmed
    ..This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis...
  4. Chantot Bastaraud S, Muti C, Pipiras E, Routon M, Roubergue A, Burglen L, et al. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. Ann Genet. 2004;47:241-9 pubmed
    ..Both ring chromosomes were labelled by FISH using the Williams Syndrome locus probe (Elastin Gene D7S486)...
  5. Mansoor A, Fidda N, Himoe E, Payne M, Lawce H, Magenis R. Myxoinflammatory fibroblastic sarcoma with complex supernumerary ring chromosomes composed of chromosome 3 segments. Cancer Genet Cytogenet. 2004;152:61-5 pubmed
    ..We describe here a second case showing supernumerary ring chromosomes, and a derivative chromosome 13, with additional material on the short arm...
  6. Zen P, Pinto L, Graziadio C, Pereira V, Paskulin G. Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. Clin Dysmorphol. 2005;14:141-3 pubmed
    ..The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features...
  7. Zhang H, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, et al. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am J Med Genet A. 2004;124A:280-7 pubmed
    ..We recommend ophthalmology, audiology, cardiology, and central nervous system examinations be part of the routine evaluation for children with a ring chromosome 6...
  8. Glass I, Rauen K, Chen E, Parkes J, Alberston D, Pinkel D, et al. Ring chromosome 15: characterization by array CGH. Hum Genet. 2006;118:611-7 pubmed
    ..These cases illustrate the utility of array CGH characterization for determining the size of the associated deletion in ring chromosomes and for facilitating phenotype-genotype correlations.
  9. Knijnenburg J, van Haeringen A, Hansson K, Lankester A, Smit M, Belfroid R, et al. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet. 2007;15:548-55 pubmed
    b>Ring chromosomes are rare cytogenetic findings and are associated at phenotypic level with mental retardation and congenital abnormalities...

More Information

Publications71

  1. 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;45:147-54 pubmed
    b>Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. In some cases no deletion has been detected and the abnormal phenotype has been attributed to mitotic ring instability...
  2. Lestou V, O Connell J, Ludkovski O, Gosling H, Lesack D, Horsman D. Coamplification of 12p11 and 12q13 approximately q22 in multiple ring chromosomes in a spindle cell sarcoma resolved by novel multicolor fluorescence in situ hybridization analysis. Cancer Genet Cytogenet. 2002;139:44-7 pubmed
    ..analysis demonstrated a complex karyotype with a der(6), a small marker and five, different in size, ring chromosomes. Fluorescence in situ hybridization (FISH), multiplex FISH, and multicolor banding analysis was used to ..
  3. Kara N, Okten G, Gunes S, Saglam Y, Tasdemir H, Pinarli F. An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion. Epilepsy Res. 2008;80:219-23 pubmed publisher
    b>Ring chromosomes are rare chromosome disorders that arise usually de novo. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies...
  4. Garcia Cruz D, Vasquez A, Perez Rulfo D, Davalos N, Penaloza J, Garcia Ortiz J, et al. Ring-20-syndrome and loss of telomeric regions. Ann Genet. 2000;43:113-6 pubmed
    ..The mother had normal karyotype. The clinical and cytogenetic features of previous cases described in the literature were compared leading to a better characterization of this syndrome...
  5. Gisselsson D, Hoglund M, Mertens F, Johansson B, Dal Cin P, Van den Berghe H, et al. The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells. Hum Genet. 1999;104:315-25 pubmed
    Acquired ring chromosomes have been found in most types of human neoplasia, with a frequency approaching 10% in malignant mesenchymal tumours...
  6. Trombetta D, Mertens F, Lonoce A, D Addabbo P, Rennstam K, Mandahl N, et al. Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors. Genes Chromosomes Cancer. 2009;48:993-1001 pubmed publisher
    b>Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT)...
  7. Ville D, de Bellescize J, Nguyen M, Testard H, Gautier A, Perrier J, et al. Ring 14 chromosome presenting as early-onset isolated partial epilepsy. Dev Med Child Neurol. 2009;51:917-22 pubmed publisher
    ..Many unanswered questions remain concerning phenotype-genotype correlation and identification of the potential genes and molecular mechanisms responsible for epilepsy in patients with ring 14 syndrome...
  8. Ahzad H, Ramli S, Loong T, Salahshourifar I, Zilfalil B, Yusoff N. De novo ring chromosome 6 in a child with multiple congenital anomalies. Kobe J Med Sci. 2010;56:E79-84 pubmed
    ..To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality...
  9. Andrieux J, Devisme L, Valat A, Robert Y, Frnka C, Savary J. Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. Eur J Med Genet. 2005;48:199-206 pubmed
    ..Magnetic resonance imaging (MRI) confirmed this, but showed a partial corpus callosum agenesis, leading to amniocentesis and revealing the chromosomal abnormality. Imaging features were correlated with autopsy findings...
  10. Jeffries A, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, et al. Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet A. 2005;137:139-47 pubmed
    ..Internal organ involvement was uncommon. Even though ring chromosomes are reportedly associated with growth abnormalities, only 2 out of 24 individuals showed evidence of growth ..
  11. Nishio J, Iwasaki H, Ohjimi Y, Ishiguro M, Isayama T, Naito M, et al. Supernumerary ring chromosomes in dermatofibrosarcoma protuberans may contain sequences from 8q11.2-qter and 17q21-qter: a combined cytogenetic and comparative genomic hybridization study. Cancer Genet Cytogenet. 2001;129:102-6 pubmed
    ..characteristic cytogenetic features such as reciprocal t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing sequences from chromosomes 17 and 22...
  12. Speevak M, Smart C, Unwin L, Bell M, Farrell S. Molecular characterization of an inherited ring (19) demonstrating ring opening. Am J Med Genet A. 2003;121A:141-5 pubmed
    b>Ring chromosomes arise following breakage in both chromosome arms and rejoining of the centric segment at the broken ends or by end-to-end fusion of the telomeres...
  13. Vignoli A, Canevini M, Darra F, La Selva L, Fiorini E, Piazzini A, et al. Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. Epilepsia. 2009;50:2420-7 pubmed publisher
    ..Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant...
  14. Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer. 2003;37:1-19 pubmed
    ..At the cytogenetic level, DP cells are characterized by either supernumerary ring chromosomes, which have been shown by using fluorescence in situ hybridization techniques to be derived from chromosome ..
  15. Miller K, Pabst B, Ritter H, Nurnberg P, Siebert R, Schmidtke J, et al. Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin. Hum Genet. 2003;112:343-7 pubmed
    We here describe the first example of the replacement of an autosome by two ring chromosomes originating from the missing chromosome, presented in a patient with a single chromosome 18 and two additional ring chromosomes...
  16. De Mas P, Chassaing N, Chaix Y, Vincent M, Julia S, Bourrouillou G, et al. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. J Med Genet. 2002;39:e17 pubmed
  17. Vermeesch J, Baten E, Fryns J, Devriendt K. Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin Genet. 2002;62:415-7 pubmed
  18. Baumer A, Giovannucci Uzielli M, Guarducci S, Lapi E, Rothlisberger B, Schinzel A. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. Am J Med Genet. 2002;113:101-4 pubmed
    ..Our results show a paternal origin of the structurally normal chromosome 18 and a maternal origin for both ring chromosomes 18...
  19. Carlton P, Cande W. Telomeres act autonomously in maize to organize the meiotic bouquet from a semipolarized chromosome orientation. J Cell Biol. 2002;157:231-42 pubmed
    ..By examining telocentric and ring chromosomes, we have tested the cis-acting requirements for participation in the bouquet...
  20. Gebhart E. Ring chromosomes in human neoplasias. Cytogenet Genome Res. 2008;121:149-73 pubmed publisher
    Though reported from a wide variety of human neoplasias, ring chromosomes, in general, are a rare finding in these diseases. The majority were detected by chance when tumors were screened for chromosomal aberrations...
  21. Kehrer Sawatzki H, Udart M, Krone W, Baden R, Fahsold R, Thomas G, et al. Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. Hum Genet. 1997;100:67-74 pubmed
    ..The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient...
  22. Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival J, David A. Inherited ring chromosome 8 without loss of subtelomeric sequences. Ann Genet. 2004;47:289-96 pubmed
    ..These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence...
  23. Sodré C, Guilherme R, Meloni V, Brunoni D, Juliano Y, Andrade J, et al. Ring chromosome instability evaluation in six patients with autosomal rings. Genet Mol Res. 2010;9:134-43 pubmed publisher
    b>Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events...
  24. Persson F, Winnes M, Andrén Y, Wedell B, Dahlenfors R, Asp J, et al. High-resolution array CGH analysis of salivary gland tumors reveals fusion and amplification of the FGFR1 and PLAG1 genes in ring chromosomes. Oncogene. 2008;27:3072-80 pubmed
    We have previously identified a subgroup of pleomorphic salivary gland adenomas with ring chromosomes of uncertain derivation...
  25. Höckner M, Utermann B, Erdel M, Fauth C, Utermann 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:925-9 pubmed publisher
    ..Thus this case clearly shows that in patients with ring chromosomes without loss of euchromatic material mitotic instability of the ring chromosome is the most important reason ..
  26. Biraben A, Semah F, Ribeiro M, Douaud G, Remy P, Depaulis A. PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. Neurology. 2004;63:73-7 pubmed
    ..The hypothesis that these long-lasting seizures are associated with a reduction of striatal dopamine was addressed in the present study in drug-resistant patients with r(20) epilepsy using PET...
  27. Augustijn P, Parra J, Wouters C, Joosten P, Lindhout D, van Emde Boas W. Ring chromosome 20 epilepsy syndrome in children: electroclinical features. Neurology. 2001;57:1108-11 pubmed
    ..This emphasizes the importance of full-night video-EEG in children with frontal lobe seizures and cognitive deterioration...
  28. Schoch C, Haferlach T, Bursch S, Gerstner D, Schnittger S, Dugas M, et al. Loss of genetic material is more common than gain in acute myeloid leukemia with complex aberrant karyotype: a detailed analysis of 125 cases using conventional chromosome analysis and fluorescence in situ hybridization including 24-color FISH. Genes Chromosomes Cancer. 2002;35:20-9 pubmed
  29. Voet T, Liebe B, Labaere C, Marynen P, Scherthan H. Telomere-independent homologue pairing and checkpoint escape of accessory ring chromosomes in male mouse meiosis. J Cell Biol. 2003;162:795-807 pubmed
    ..Our findings indicate a telomere-independent mechanism for pairing of mammalian MCs, illuminate escape routes to meiotic checkpoints, and give clues for genetic engineering of germ line-permissive chromosomal vectors...
  30. Morava E, Bartsch O, Czako M, Frensel A, Karteszi J, Kosztolanyi G. A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion. Genet Couns. 2003;14:337-42 pubmed
    ..Patchy skin hypopigmentation is a well known nonspecific sign in cytogenetic mosaicism which is commonly seen in ring syndrome...
  31. Luciani J, De Mas P, Depetris D, Mignon Ravix C, Bottani A, Prieur M, et al. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet. 2003;40:690-6 pubmed
  32. Tsilchorozidou T, Menko F, Lalloo F, Kidd A, De Silva R, Thomas H, et al. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. J Med Genet. 2004;41:529-34 pubmed
  33. Guilherme R, Bragagnolo S, Pellegrino R, Christofolini D, Takeno S, Carvolheira G, et al. Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature. Cytogenet Genome Res. 2011;134:325-30 pubmed publisher
    ..This is the first patient with r(3) studied using molecular techniques that determined the exact breakpoints in order to establish a better karyotype-phenotype correlation...
  34. Ivanovich J, Watson M, Whelan A. An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root. Am J Med Genet. 2001;98:182-4 pubmed
    Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies...
  35. Anderlid B, Sahlén S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, et al. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet. 2001;99:223-33 pubmed
    Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied. The ring chromosomes were characterized using microdissection in combination with degenerate nucleotide-primed polymerase chain reaction (..
  36. Shashi V, White J, Pettenati M, Root S, Bell W. Ring chromosome 17: phenotype variation by deletion size. Clin Genet. 2003;64:361-5 pubmed
    ..This classification of ring 17 into two distinct groups based on the size of the deletion and the phenotypic manifestations should facilitate clinical suspicion of this rare chromosomal abnormality...
  37. Herrgard E, Mononen T, Mervaala E, Kuusela L, Äikiä M, Stenbäck U, et al. More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome. Epilepsy Res. 2007;73:122-8 pubmed
    ..Cases tend to be sporadic. We elucidate the characteristics of an inherited r(20) mosaicism by describing the clinical features of three family members: a mother and her two children...
  38. Ville D, Kaminska A, Bahi Buisson N, Biraben A, Plouin P, Telvi L, et al. Early pattern of epilepsy in the ring chromosome 20 syndrome. Epilepsia. 2006;47:543-9 pubmed
    ..The mode of onset most often remains imprecise. To clarify this onset period, we studied the early-onset features in our personal series and in the reported pediatric cases...
  39. Bonnet C, Zix C, Grégoire M, Brochet K, Duc M, Rousselet F, et al. Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity. Am J Med Genet A. 2006;140:233-7 pubmed
    ..2 and including the insulin-like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene...
  40. Nishiwaki T, Hirano M, Kumazawa M, Ueno S. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol Scand. 2005;111:205-8 pubmed
    ..Our results provide important clinical information and prediction for r(20) syndrome...
  41. Zou Y, Van Dyke D, Thorland E, Chhabra H, Michels V, Keefe J, et al. Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review. Am J Med Genet A. 2006;140:1696-706 pubmed
  42. Heidenblad M, Hallor K, Staaf J, Jonsson G, Borg A, Hoglund M, et al. Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarrays. Oncogene. 2006;25:7106-16 pubmed
    b>Ring chromosomes and/or giant marker chromosomes have been observed in a variety of human tumor types, but they are particularly common in a subgroup of mesenchymal tumors of low-grade or borderline malignancy...
  43. Conlin L, Kramer W, Hutchinson A, Li X, Riethman H, Hakonarson H, et al. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet. 2011;48:1-9 pubmed publisher
    ..The ring chromosome 20 syndrome (R20) is a rare genetic disorder associated with a refractory electroclinical epilepsy syndrome and variably expressed comorbidities of intellectual disability and dysmorphism...
  44. Kadmon P. The uncertainty of life. Am J Med Genet A. 2007;143A:1958-9 pubmed
  45. Bettio D, Baldwin E, Carrozzo R, Vignoli A, May L, Venci A, et al. Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism. Am J Med Genet A. 2008;146A:247-50 pubmed
  46. Murata M, Shibata F, Hironaka A, Kashihara K, Fujimoto S, Yokota E, et al. Generation of an artificial ring chromosome in Arabidopsis by Cre/LoxP-mediated recombination. Plant J. 2013;74:363-71 pubmed publisher
    ..Therefore, AtARC1 meets the criteria for a PAC and is a promising vector. ..
  47. Kosztolanyi G, Brecevic L, Bajnoczky K, Schinzel A, Riegel M. Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. Eur J Med Genet. 2011;54:152-6 pubmed publisher
  48. El Abd S, Patton M, Turk J, Hoey H, Howlin P. Social, communicational, and behavioral deficits associated with ring X turner syndrome. Am J Med Genet. 1999;88:510-6 pubmed
    ..In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X. ..
  49. Ki A, Rauen K, Black L, Kostiner D, Sandberg P, Pinkel D, et al. Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR. Am J Med Genet A. 2003;120A:365-9 pubmed
    ..This represents a novel mechanism for the origin of ectopic NORs. In addition, this study illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopic NORs. ..
  50. Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F. Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. Epileptic Disord. 2008;10:254-9 pubmed publisher
  51. Koc A, Karaer K, Ergun M, Yirmibeş Karaoğuz M, Kan D, Cansu A, et al. A case with a ring chromosome 22. Turk J Pediatr. 2008;50:193-6 pubmed
    ..We found that 22q11.2 regions were intact on both chromosomes 22, but 22q13.3 (Arylsulfatase A; ARSA region) was absent in the ring chromosome. As far as we know this is the first reported Turkish patient in the literature. ..
  52. Locharernkul C, Ebner A, Promchainant C. Ring chromosome 20 with nonconvulsive status epilepticus: electroclinical correlation of a rare epileptic syndrome. Clin EEG Neurosci. 2005;36:151-60 pubmed
    ..Assessing the severity of this syndrome using both clinical seizures and EEG is crucial. ..
  53. 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:1116-24 pubmed publisher
    ..65 to 5 Mb, was detected in the remaining 14 cases. Deleted ring chromosomes were 70% paternal and 30% maternal. UPD (14) was never detected...
  54. Dawson A, Wickstrom D, Riordan D, Cardwell S, Casey R, Baldry S, et al. A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q. Am J Med Genet A. 2004;124A:303-6 pubmed
    ..However, the lower percentage of mosaicism for the dup(1) in our patient would suggest a milder influence on the clinical phenotype...
  55. Berger R, Busson M. Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia. Ann Genet. 2002;45:161-3 pubmed
    ..Another patient with partial 8q deletion has been previously reported. It is suggested that more attention be paid to the genes located in distal 8q in relation to leukemogenesis...
  56. Searle A, Whitehill K. Spermatogenic effects of male-fertile translocations in the mouse. Mutat Res. 1991;249:331-7 pubmed
    ..Some inconclusive evidence suggested that this might be because some genetic factors associated with C57BL tended to reduce chiasma frequencies in translocation heterozygotes...
  57. Bigby S, Oei P, Lambie N, Symmans P. Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy. J Cutan Pathol. 2006;33:383-8 pubmed
    ..Rare cases documenting variant ring or marker chromosomes involving regions other than 17q22 and 22q13 have been reported. Further analysis in three of these cases demonstrated the presence of the COL1A1 and PDGFB genes...
  58. Van den Berghe I, Debiec Rychter M, Proot L, Hagemeijer A, Michielssen P. Ring chromosome 6 may represent a cytogenetic subgroup in benign thymoma. Cancer Genet Cytogenet. 2002;137:75-7 pubmed
    ..This finding, together with literature data, strongly suggests that terminal deletion of the short arm of chromosome 6 is a recurrent aberration in thymoma...
  59. Lee M, Park S, Kim Y, Kim J, Yoo K, Lee H, et al. Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child. Cytogenet Genome Res. 2005;111:175-8 pubmed
    ..Delivery was uncomplicated. This is the first report, to our knowledge, of the presence of ring chromosome 4 having various mosaic conditions in a female having a chromosomally normal fetus...
  60. Gisselsson D, Kristoffersson U, Giwercman A. Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?. Clin Genet. 2003;64:519-21 pubmed
  61. Shibata F, Murata M. Differential localization of the centromere-specific proteins in the major centromeric satellite of Arabidopsis thaliana. J Cell Sci. 2004;117:2963-70 pubmed
  62. Sutter R, Kaplan P. Electroencephalographic criteria for nonconvulsive status epilepticus: synopsis and comprehensive survey. Epilepsia. 2012;53 Suppl 3:1-51 pubmed publisher
    ..This compendium of patterns by NCSE syndrome classification with illustration of EEGs, and delineation of electroencephalographic features helps define the characteristics and semiologic borderlines among the types of NCSE...