{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:15:42Z","timestamp":1791396942164,"version":"4.3.3"},"reference-count":109,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,9,12]],"date-time":"2017-09-12T00:00:00Z","timestamp":1505174400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Russian Science Foundation (RU)","award":["16-15-10231"],"award-info":[{"award-number":["16-15-10231"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Protoplasma"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1007\/s00709-017-1165-1","type":"journal-article","created":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T22:34:31Z","timestamp":1505169271000},"page":"439-449","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Ring chromosomes: from formation to clinical potential"],"prefix":"10.1007","volume":"255","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0226-4213","authenticated-orcid":false,"given":"Inna E.","family":"Pristyazhnyuk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksei G.","family":"Menzorov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,9,12]]},"reference":[{"key":"1165_CR1","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1086\/342730","volume":"71","author":"DJ Amor","year":"2002","unstructured":"Amor DJ, Choo KH (2002) Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet 71:695\u2013714. https:\/\/doi.org\/10.1086\/342730","journal-title":"Am J Hum Genet"},{"key":"1165_CR2","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1093\/humrep\/deh598","volume":"20","author":"N Arnedo","year":"2005","unstructured":"Arnedo N, Nogu\u00e9s C, Bosch M, Templado C (2005) Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation. Hum Reprod 20:462\u2013468. https:\/\/doi.org\/10.1093\/humrep\/deh598","journal-title":"Hum Reprod"},{"key":"1165_CR3","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/j.ajhg.2007.10.013","volume":"82","author":"EL Baldwin","year":"2008","unstructured":"Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH (2008) Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 82:398\u2013410. https:\/\/doi.org\/10.1016\/j.ajhg.2007.10.013","journal-title":"Am J Hum Genet"},{"key":"1165_CR4","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1385\/1-59259-828-5:121","volume":"287","author":"JA Baur","year":"2004","unstructured":"Baur JA, Wright WE, Shay JW (2004) Analysis of mammalian telomere position effect. Methods Mol Biol 287:121\u2013136. https:\/\/doi.org\/10.1385\/1-59259-828-5:121","journal-title":"Methods Mol Biol"},{"key":"1165_CR5","first-page":"465","volume":"28","author":"PA Benn","year":"1976","unstructured":"Benn PA (1976) Specific chromosome aberrations in senescent fibroblast cell lines derived from human embryos. Am J Hum Genet 28:465\u2013473","journal-title":"Am J Hum Genet"},{"key":"1165_CR6","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.ejmg.2006.11.001","volume":"50","author":"L Bernardini","year":"2007","unstructured":"Bernardini L, Capalbo A, D\u2019Avanzo MG, Torrente I, Grammatico P, Dell\u2019Edera D, Cavalcanti DP, Novelli A, Dallapiccola B (2007) Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation. Eur J Med Genet 50:94\u2013102. https:\/\/doi.org\/10.1016\/j.ejmg.2006.11.001","journal-title":"Eur J Med Genet"},{"key":"1165_CR7","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/nature12923","volume":"507","author":"M Bershteyn","year":"2014","unstructured":"Bershteyn M, Hayashi Y, Desachy G, Hsiao EC, Sami S, Tsang KM, Weiss LA, Kriegstein AR, Yamanaka S, Wynshaw-Boris A (2014) Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells. Nature 507:99\u2013103. https:\/\/doi.org\/10.1038\/nature12923","journal-title":"Nature"},{"key":"1165_CR8","doi-asserted-by":"publisher","first-page":"1744","DOI":"10.1016\/j.fertnstert.2005.06.034","volume":"84","author":"V Bertini","year":"2005","unstructured":"Bertini V, Canale D, Bicocchi MP, Simi P, Valetto A (2005) Mosaic ring Y chromosome in two normal healthy men with azoospermia. Fertil Steril 84:1744. https:\/\/doi.org\/10.1016\/j.fertnstert.2005.06.034","journal-title":"Fertil Steril"},{"key":"1165_CR9","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/S0015-0282(02)04931-2","volume":"79","author":"J Blanco","year":"2003","unstructured":"Blanco J, Farreras A, Egozcue J, Vidal F (2003) Meiotic behavior of the sex chromosomes in a 45,X\/46,X,r(Y)\/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization. Fertil Steril 79:913\u2013918","journal-title":"Fertil Steril"},{"key":"1165_CR10","first-page":"433","volume":"53","author":"E Blennow","year":"1993","unstructured":"Blennow E, Anner\u00e9n G, Bui TH, Berggren E, Asadi E, Nordenskj\u00f6ld M (1993) Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 53:433\u2013442","journal-title":"Am J Hum Genet"},{"key":"1165_CR11","first-page":"645","volume":"44","author":"MK Bofinger","year":"1999","unstructured":"Bofinger MK, Needham DF, Saldana LR, Sosnowski JP, Blough RI (1999) 45,X\/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia. A case report. J Reprod Med 44:645\u2013648","journal-title":"J Reprod Med"},{"key":"1165_CR12","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/ajmg.1320560221","volume":"56","author":"H Chen","year":"1995","unstructured":"Chen H, Tuck-Muller CM, Batista DA, Wertelecki W (1995) Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. Am J Med Genet 56:219\u2013233. https:\/\/doi.org\/10.1002\/ajmg.1320560221","journal-title":"Am J Med Genet"},{"key":"1165_CR13","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1128\/MCB.00687-09","volume":"30","author":"CF Chin","year":"2010","unstructured":"Chin CF, Yeong FM (2010) Safeguarding entry into mitosis: the antephase checkpoint. Mol Cell Biol 30:22\u201332. https:\/\/doi.org\/10.1128\/MCB.00687-09","journal-title":"Mol Cell Biol"},{"key":"1165_CR14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2010.080382","volume":"48","author":"LK Conlin","year":"2011","unstructured":"Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA et al (2011) Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet 48:1\u20139. https:\/\/doi.org\/10.1136\/jmg.2010.080382","journal-title":"J Med Genet"},{"issue":"4","key":"1165_CR15","first-page":"231","volume":"24","author":"GB Cote","year":"1981","unstructured":"Cote GB, Katsantoni A, Deligeorgis D (1981) The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 24(4):231\u2013235","journal-title":"Ann Genet"},{"issue":"4","key":"1165_CR16","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1038\/35066075","volume":"2","author":"T Cremer","year":"2001","unstructured":"Cremer T, Cremer C (2001) Chromosome territories, nuclear architecture and gene regulation in mammalian cells. Nat Rev Genet 2(4):292\u2013301. https:\/\/doi.org\/10.1038\/35066075","journal-title":"Nat Rev Genet"},{"key":"1165_CR17","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF00446625","volume":"35","author":"PE Crossen","year":"1977","unstructured":"Crossen PE, Drets ME, Arrighi FE, Johnston DA (1977) Analysis of the frequency and distribution of sister chromatid exchanges in cultured human lymphocytes. Hum Genet 35:345\u2013352","journal-title":"Hum Genet"},{"key":"1165_CR18","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1016\/j.ejmg.2012.02.004","volume":"55","author":"RD Daber","year":"2012","unstructured":"Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB (2012) Ring chromosome 20. Eur J Med Genet 55:381\u2013387. https:\/\/doi.org\/10.1016\/j.ejmg.2012.02.004","journal-title":"Eur J Med Genet"},{"key":"1165_CR19","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1007\/BF00401230","volume":"73","author":"B Dallapiccola","year":"1986","unstructured":"Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L (1986) Ring chromosome 21 in healthy persons: different consequences in females and in males. Hum Genet 73:218\u2013220","journal-title":"Hum Genet"},{"key":"1165_CR20","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1016\/j.yebeh.2012.02.008","volume":"23","author":"I Elens","year":"2012","unstructured":"Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G et al (2012) Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature. Epilepsy Behav 23:409\u2013414. https:\/\/doi.org\/10.1016\/j.yebeh.2012.02.008","journal-title":"Epilepsy Behav"},{"key":"1165_CR21","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1002\/ajmg.1320300406","volume":"30","author":"K Fagan","year":"1988","unstructured":"Fagan K, Suthers GK, Hardacre G (1988) Ring chromosome 11 and caf\u00e9-au-lait spots. Am J Med Genet 30:911\u2013916. https:\/\/doi.org\/10.1002\/ajmg.1320300406","journal-title":"Am J Med Genet"},{"key":"1165_CR22","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s004390050665","volume":"102","author":"S Finkelstein","year":"1998","unstructured":"Finkelstein S, Mukamel E, Yavetz H, Paz G, Avivi L (1998) Increased rate of nondisjunction in sex cells derived from low-quality semen. Hum Genet 102:129\u2013137","journal-title":"Hum Genet"},{"key":"1165_CR23","doi-asserted-by":"publisher","first-page":"2147","DOI":"10.1007\/s00204-016-1766-z","volume":"90","author":"A Fucic","year":"2016","unstructured":"Fucic A, Aghajanyan A, Druzhinin V, Minina V, Neronova E (2016) Follow-up studies on genome damage in children after Chernobyl nuclear power plant accident. Arch Toxicol 90:2147\u20132159. https:\/\/doi.org\/10.1007\/s00204-016-1766-z","journal-title":"Arch Toxicol"},{"key":"1165_CR24","doi-asserted-by":"publisher","first-page":"R946","DOI":"10.1016\/j.cub.2014.08.032","volume":"24","author":"T Fukagawa","year":"2014","unstructured":"Fukagawa T, Earnshaw WC (2014) Neocentromeres. Curr Biol 24:R946\u2013R947. https:\/\/doi.org\/10.1016\/j.cub.2014.08.032","journal-title":"Curr Biol"},{"key":"1165_CR25","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1159\/000138881","volume":"121","author":"E Gebhart","year":"2008","unstructured":"Gebhart E (2008) Ring chromosomes in human neoplasias. Cytogenet Genome Res 121:149\u2013173. https:\/\/doi.org\/10.1159\/000138881","journal-title":"Cytogenet Genome Res"},{"key":"1165_CR26","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1186\/1471-2350-11-146","volume":"11","author":"D Giardino","year":"2010","unstructured":"Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L et al (2010) Genetic investigations on 8 patients affected by ring 20 chromosome syndrome. BMC Med Genet 11:146. https:\/\/doi.org\/10.1186\/1471-2350-11-146","journal-title":"BMC Med Genet"},{"key":"1165_CR27","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.4161\/cc.4.8.1884","volume":"4","author":"D Gisselsson","year":"2005","unstructured":"Gisselsson D (2005) Mitotic instability in cancer: is there method in the madness? Cell Cycle 4:1007\u20131010. https:\/\/doi.org\/10.4161\/cc.4.8.1884","journal-title":"Cell Cycle"},{"key":"1165_CR28","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s004390050960","volume":"104","author":"D Gisselsson","year":"1999","unstructured":"Gisselsson D, H\u00f6glund M, Mertens F, Johansson B, Dal Cin P, Van den Berghe H, Earnshaw WC, Mitelman F, Mandahl N (1999) The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells. Hum Genet 104:315\u2013325","journal-title":"Hum Genet"},{"key":"1165_CR29","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1159\/000329478","volume":"134","author":"RS Guilherme","year":"2011","unstructured":"Guilherme RS, Bragagnolo S, Pellegrino R, Christofolini DM, Takeno SS, Carvolheira GM, Kulikowski LD, Melaragno MI (2011a) Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature. Cytogenet Genome Res 134:325\u2013330. https:\/\/doi.org\/10.1159\/000329478","journal-title":"Cytogenet Genome Res"},{"key":"1165_CR30","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1186\/1471-2350-12-171","volume":"12","author":"RS Guilherme","year":"2011","unstructured":"Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI (2011b) Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet 12:171. https:\/\/doi.org\/10.1186\/1471-2350-12-171","journal-title":"BMC Med Genet"},{"key":"1165_CR31","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1007\/s13353-015-0311-8","volume":"57","author":"RS Guilherme","year":"2016","unstructured":"Guilherme RS, Moys\u00e9s-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI (2016) Position effect modifying gene expression in a patient with ring chromosome 14. J Appl Genet 57:183\u2013187. https:\/\/doi.org\/10.1007\/s13353-015-0311-8","journal-title":"J Appl Genet"},{"key":"1165_CR32","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0165-4608(87)90114-2","volume":"24","author":"S Heim","year":"1987","unstructured":"Heim S, Mandahl N, Kristoffersson U, Mitelman F, R\u00f6\u00f6ser B, Rydholm A, Will\u00e9n H (1987) Marker ring chromosome\u2014a new cytogenetic abnormality characterizing lipogenic tumors? Cancer Genet Cytogenet 24:319\u2013326","journal-title":"Cancer Genet Cytogenet"},{"key":"1165_CR33","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<426::AID-AJMG10>3.0.CO;2-I","volume":"71","author":"O Henegariu","year":"1997","unstructured":"Henegariu O, Pescovitz OH, Vance GH, Verbrugge J, Heerema NA (1997) A case with mosaic di-, tetra-, and octacentric ring Y chromosomes. Am J Med Genet 71:426\u2013429","journal-title":"Am J Med Genet"},{"key":"1165_CR34","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004139","volume":"10","author":"KE Hermetz","year":"2014","unstructured":"Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD, Rudd MK (2014) Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet 10:e1004139. https:\/\/doi.org\/10.1371\/journal.pgen.1004139","journal-title":"PLoS Genet"},{"key":"1165_CR35","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00329128","volume":"55","author":"A Ieshima","year":"1980","unstructured":"Ieshima A, Ogasawara N, Yamamoto Y, Kuroki Y (1980) A case of r(21) with stigmata of atypical Down syndrome. Hum Genet 55:65\u201369","journal-title":"Hum Genet"},{"key":"1165_CR36","first-page":"32","volume":"33","author":"T Ikeuchi","year":"1990","unstructured":"Ikeuchi T, Yamamoto K, Qiao F, Hayakawa K, Migita T, Nishikawa Y (1990) Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line. Ann Genet 33:32\u201335","journal-title":"Ann Genet"},{"issue":"3","key":"1165_CR37","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1399-0004.1975.tb01490.x","volume":"8","author":"PA Jacobs","year":"1975","unstructured":"Jacobs PA, Frackiewicz A, Law P, Hilditch CJ, Morton NE (1975) The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results. Clin Genet 8(3):169\u2013178","journal-title":"Clin Genet"},{"key":"1165_CR38","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.1225829","volume":"337","author":"M Jinek","year":"2012","unstructured":"Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, Charpentier E (2012) A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science 337:816\u2013821. https:\/\/doi.org\/10.1126\/science.1225829","journal-title":"Science"},{"key":"1165_CR39","doi-asserted-by":"publisher","first-page":"1","DOI":"10.7750\/BioDiscovery.2013.7.1","volume":"7","author":"T Karamysheva","year":"2013","unstructured":"Karamysheva T, Prokhorovich M, Lagarkova M, Kiselev S, Liehr T, Rubtsov N (2013) Chromosome rearrangements in sublines of human embryonic stem cell lines hESM01 and hESM0. BioDiscovery 7:1. https:\/\/doi.org\/10.7750\/BioDiscovery.2013.7.1","journal-title":"BioDiscovery"},{"key":"1165_CR40","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1080\/13668250701829829","volume":"33","author":"A Kaur","year":"2008","unstructured":"Kaur A, Dhillon S, Garg PD, Singh JR (2008) Ring chromosome 7 in an Indian woman. J Intellect Develop Disabil 33:87\u201394. https:\/\/doi.org\/10.1080\/13668250701829829","journal-title":"J Intellect Develop Disabil"},{"issue":"2","key":"1165_CR41","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/(SICI)1098-2264(199910)26:2<125::AID-GCC4>3.0.CO;2-A","volume":"26","author":"B Kazmierczak","year":"1999","unstructured":"Kazmierczak B, Meyer-Bolte K, Tran KH, W\u00f6ckel W, Breightman I, Rosigkeit J, Bartnitzke S, Bullerdiek J (1999) A high frequency of tumors with rearrangements of genes of the HMGI(Y) family in a series of 191 pulmonary chondroid hamartomas. Genes Chromosom Cancer 26(2):125\u2013133","journal-title":"Genes Chromosom Cancer"},{"key":"1165_CR42","doi-asserted-by":"publisher","first-page":"391","DOI":"10.4161\/nucl.36300","volume":"5","author":"T Kim","year":"2014","unstructured":"Kim T, Bershteyn M, Wynshaw-Boris A (2014) Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs). Nucleus 5:391\u2013395. https:\/\/doi.org\/10.4161\/nucl.36300","journal-title":"Nucleus"},{"key":"1165_CR43","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.2000016","volume":"14","author":"W Kim","year":"2016","unstructured":"Kim W, Ludlow AT, Min J, Robin JD, Stadler G, Mender I, Lai TP, Zhang N, Wright WE, Shay JW (2016) Regulation of the human telomerase gene TERT by telomere position effect-over long distances (TPE-OLD): implications for aging and cancer. PLoS Biol 14:e2000016. https:\/\/doi.org\/10.1371\/journal.pbio.2000016","journal-title":"PLoS Biol"},{"key":"1165_CR44","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1007\/s00412-016-0621-6","volume":"126","author":"T Kim","year":"2017","unstructured":"Kim T, Plona K, Wynshaw-Boris A (2017) A novel system for correcting large-scale chromosomal aberrations: ring chromosome correction via reprogramming into induced pluripotent stem cell (iPSC). Chromosoma 126:457\u2013463. https:\/\/doi.org\/10.1007\/s00412-016-0621-6","journal-title":"Chromosoma"},{"key":"1165_CR45","first-page":"304","volume":"22","author":"ML Kistenmacher","year":"1970","unstructured":"Kistenmacher ML, Punnett HH (1970) Comparative behavior of ring chromosomes. Am J Hum Genet 22:304\u2013318","journal-title":"Am J Hum Genet"},{"key":"1165_CR46","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1038\/sj.ejhg.5201807","volume":"15","author":"J Knijnenburg","year":"2007","unstructured":"Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K (2007) Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet 15:548\u2013555. https:\/\/doi.org\/10.1038\/sj.ejhg.5201807","journal-title":"Eur J Hum Genet"},{"key":"1165_CR47","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1007\/s00431-007-0568-y","volume":"167","author":"A Ko\u00e7","year":"2008","unstructured":"Ko\u00e7 A, Kan D, Karaer K, Erg\u00fcn MA, Karao\u011fuz MY, G\u00fcc\u00fcyener K, Hinreiner S, Liehr T, Per\u00e7in EF (2008) An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. Eur J Pediatr 167:655\u2013659. https:\/\/doi.org\/10.1007\/s00431-007-0568-y","journal-title":"Eur J Pediatr"},{"key":"1165_CR48","first-page":"157","volume":"26","author":"G Kosztol\u00e1nyi","year":"1985","unstructured":"Kosztol\u00e1nyi G (1985) Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies. Acta Paediatr Hung 26:157\u2013165","journal-title":"Acta Paediatr Hung"},{"key":"1165_CR49","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/BF00591082","volume":"75","author":"G Kosztol\u00e1nyi","year":"1987","unstructured":"Kosztol\u00e1nyi G (1987a) Does \u201cring syndrome\u201d exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 75:174\u2013179","journal-title":"Hum Genet"},{"key":"1165_CR50","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1002\/ajmg.1320280125","volume":"28","author":"G Kosztol\u00e1nyi","year":"1987","unstructured":"Kosztol\u00e1nyi G (1987b) Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure? Am J Med Genet 28:181\u2013184. https:\/\/doi.org\/10.1002\/ajmg.1320280125","journal-title":"Am J Med Genet"},{"key":"1165_CR51","first-page":"44","volume":"35","author":"G Kosztol\u00e1nyi","year":"2009","unstructured":"Kosztol\u00e1nyi G (2009) The genetics and clinical characteristics of constitutional ring chromosomes. J Assoc Genet Technol 35:44\u201348","journal-title":"J Assoc Genet Technol"},{"key":"1165_CR52","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/j.1651-2227.1986.tb10209.x","volume":"75","author":"G Kosztol\u00e1nyi","year":"1986","unstructured":"Kosztol\u00e1nyi G, Pap M (1986) Severe growth failure associated with atrophic intestinal mucosa and ring chromosome 15. Acta Paediatr Scand 75:326\u2013331","journal-title":"Acta Paediatr Scand"},{"key":"1165_CR53","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1007\/BF00200912","volume":"87","author":"G Kosztol\u00e1nyi","year":"1991","unstructured":"Kosztol\u00e1nyi G, M\u00e9hes K, Hook EB (1991) Inherited ring chromosomes: an analysis of published cases. Hum Genet 87:320\u2013324","journal-title":"Hum Genet"},{"key":"1165_CR54","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1016\/j.ejmg.2010.11.015","volume":"54","author":"G Kosztol\u00e1nyi","year":"2011","unstructured":"Kosztol\u00e1nyi G, Brecevic L, Bajn\u00f2czky K, Schinzel A, Riegel M (2011) Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. Eur J Med Genet 54:152\u2013156. https:\/\/doi.org\/10.1016\/j.ejmg.2010.11.015","journal-title":"Eur J Med Genet"},{"key":"1165_CR55","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1212\/WNL.0b013e3181bc0158","volume":"73","author":"H Kurahashi","year":"2009","unstructured":"Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T et al (2009) Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology 73:1214\u20131217. https:\/\/doi.org\/10.1212\/WNL.0b013e3181bc0158","journal-title":"Neurology"},{"key":"1165_CR56","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1016\/j.stem.2010.12.003","volume":"8","author":"LC Laurent","year":"2011","unstructured":"Laurent LC, Ulitsky I, Slavin I, Tran H, Schork A, Morey R, Lynch C, Harness JV, Lee S, Barrero MJ et al (2011) Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture. Cell Stem Cell 8:106\u2013118. https:\/\/doi.org\/10.1016\/j.stem.2010.12.003","journal-title":"Cell Stem Cell"},{"key":"1165_CR57","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/s10815-014-0388-8","volume":"32","author":"RJ Laursen","year":"2015","unstructured":"Laursen RJ, T\u00fcttelmann F, Humaidan P, Elb\u00e6k HO, Alsbjerg B, R\u00f6pke A (2015) Azoospermia and ring chromosome 9\u2014a case report. J Assist Reprod Genet 32:293\u2013296. https:\/\/doi.org\/10.1007\/s10815-014-0388-8","journal-title":"J Assist Reprod Genet"},{"key":"1165_CR58","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1083\/jcb.139.7.1611","volume":"139","author":"R LeMaire-Adkins","year":"1997","unstructured":"LeMaire-Adkins R, Radke K, Hunt PA (1997) Lack of checkpoint control at the metaphase\/anaphase transition: a mechanism of meiotic nondisjunction in mammalian females. J Cell Biol 139:1611\u20131619","journal-title":"J Cell Biol"},{"key":"1165_CR59","doi-asserted-by":"publisher","first-page":"15022","DOI":"10.1038\/celldisc.2015.22","volume":"1","author":"Y Luo","year":"2015","unstructured":"Luo Y, Zhu D, Du R, Gong Y, Xie C, Xu X, Fan Y, Yu B, Sun X, Chen Y (2015) Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells. Cell Discov 1:15022. https:\/\/doi.org\/10.1038\/celldisc.2015.22","journal-title":"Cell Discov"},{"key":"1165_CR60","first-page":"250","volume":"31","author":"S Manouvrier-Hanu","year":"1988","unstructured":"Manouvrier-Hanu S, Turck D, Gottrand F, Savary JB, Loeuille GA, Deminatti MM, Farriaux JP (1988) Ring chromosome 9. Case report and review of the literature. Ann Genet 31:250\u2013253","journal-title":"Ann Genet"},{"key":"1165_CR61","doi-asserted-by":"publisher","first-page":"4518","DOI":"10.1182\/blood-2006-10-054247","volume":"109","author":"C Mantel","year":"2007","unstructured":"Mantel C, Guo Y, Lee MR, Kim MK, Han MK, Shibayama H, Fukuda S, Yoder MC, Pelus LM, Kim KS et al (2007) Checkpoint-apoptosis uncoupling in human and mouse embryonic stem cells: a source of karyotpic instability. Blood 109:4518\u20134527. https:\/\/doi.org\/10.1182\/blood-2006-10-054247","journal-title":"Blood"},{"key":"1165_CR62","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/1755-8166-2-3","volume":"2","author":"A Mantzouratou","year":"2009","unstructured":"Mantzouratou A, Mania A, Apergi M, Laver S, Serhal P, Delhanty J (2009) Meiotic and mitotic behaviour of a ring\/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier. Mol Cytogenet 2:3. https:\/\/doi.org\/10.1186\/1755-8166-2-3","journal-title":"Mol Cytogenet"},{"key":"1165_CR63","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1159\/000086895","volume":"111","author":"RH Martin","year":"2005","unstructured":"Martin RH (2005) Mechanisms of nondisjunction in human spermatogenesis. Cytogenet Genome Res 111:245\u2013249. https:\/\/doi.org\/10.1159\/000086895","journal-title":"Cytogenet Genome Res"},{"key":"1165_CR64","doi-asserted-by":"publisher","first-page":"6884","DOI":"10.1038\/sj.onc.1205566","volume":"21","author":"A Masuda","year":"2002","unstructured":"Masuda A, Takahashi T (2002) Chromosome instability in human lung cancers: possible underlying mechanisms and potential consequences in the pathogenesis. Oncogene 21:6884\u20136897. https:\/\/doi.org\/10.1038\/sj.onc.1205566","journal-title":"Oncogene"},{"key":"1165_CR65","first-page":"1","volume":"163","author":"B McClintock","year":"1931","unstructured":"McClintock B (1931) Cytological observations of deficiencies involving known genes, translocations and an inversion in Zea mays. Mo Agric Exp Sta Res Bull 163:1\u201330","journal-title":"Mo Agric Exp Sta Res Bull"},{"key":"1165_CR66","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/genetics\/23.4.315","volume":"23","author":"B McClintock","year":"1938","unstructured":"McClintock B (1938) The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behavior of ring-shaped chromosomes. Genetics 23:315\u2013376","journal-title":"Genetics"},{"key":"1165_CR67","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1093\/genetics\/26.2.234","volume":"26","author":"B McClintock","year":"1941","unstructured":"McClintock B (1941) The stability of broken ends of chromosomes in Zea mays. Genetics 26:234\u2013282","journal-title":"Genetics"},{"key":"1165_CR68","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmg.14.3.228","volume":"14","author":"A McDermott","year":"1977","unstructured":"McDermott A, Voyce MA, Romain D (1977) Ring chromosome 4. J Med Genet 14:228\u2013232","journal-title":"J Med Genet"},{"key":"1165_CR69","first-page":"15","volume":"50","author":"MJ McGinniss","year":"1992","unstructured":"McGinniss MJ, Kazazian HH, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z (1992) Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 50:15\u201328","journal-title":"Am J Hum Genet"},{"key":"1165_CR70","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0140-6736(66)91803-4","volume":"2","author":"ME McIlree","year":"1966","unstructured":"McIlree ME, Price WH, Brown WM, Tulloch WS, Newsam JE, Maclean N (1966) Chromosome studies on testicular cells from 50 subfertile men. Lancet 2:69\u201371","journal-title":"Lancet"},{"key":"1165_CR71","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1002\/ajmg.a.30370","volume":"131","author":"Y Mehraein","year":"2004","unstructured":"Mehraein Y, Ehlhardt S, Wagner A, G\u00f6ttert E, Tilgen W, Zang KD, Dill-M\u00fcller D (2004) Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. Am J Med Genet A 131:179\u2013185. https:\/\/doi.org\/10.1002\/ajmg.a.30370","journal-title":"Am J Med Genet A"},{"key":"1165_CR72","doi-asserted-by":"publisher","first-page":"71","DOI":"10.2478\/v10034-011-0049-5","volume":"14","author":"T Milenkovic","year":"2011","unstructured":"Milenkovic T, Guc-Scekic M, Zdravkovic D, Topic V, Liehr T, Joksic G, Radivojevic D, Lakic N (2011) Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. Balkan J Med Genet 14:71\u201376. https:\/\/doi.org\/10.2478\/v10034-011-0049-5","journal-title":"Balkan J Med Genet"},{"key":"1165_CR73","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1073\/pnas.12.3.180","volume":"12","author":"LV Morgan","year":"1926","unstructured":"Morgan LV (1926) Correlation between shape and behavior of a chromosome. Proc Natl Acad Sci U S A 12:180\u2013181","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1165_CR74","doi-asserted-by":"publisher","first-page":"2241","DOI":"10.1093\/hmg\/ddp160","volume":"18","author":"AE Murmann","year":"2009","unstructured":"Murmann AE, Conrad DF, Mashek H, Curtis CA, Nicolae RI, Ober C, Schwartz S (2009) Inverted duplications on acentric markers: mechanism of formation. Hum Mol Genet 18:2241\u20132256. https:\/\/doi.org\/10.1093\/hmg\/ddp160","journal-title":"Hum Mol Genet"},{"key":"1165_CR75","first-page":"1553","volume":"147","author":"R Naeem","year":"1995","unstructured":"Naeem R, Lux ML, Huang SF, Naber SP, Corson JM, Fletcher JA (1995) Ring chromosomes in dermatofibrosarcoma protuberans are composed of interspersed sequences from chromosomes 17 and 22. Am J Pathol 147:1553\u20131558","journal-title":"Am J Pathol"},{"issue":"1","key":"1165_CR76","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.ejmg.2010.09.014","volume":"54","author":"S Nik-Zainal","year":"2011","unstructured":"Nik-Zainal S, Cotter PE, Willatt LR, Abbott K, O\u2019Brien EW (2011) Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand factor gene associated with cryptogenic stroke in a young adult male. Eur J Med Genet 54(1):97\u2013101. https:\/\/doi.org\/10.1016\/j.ejmg.2010.09.014","journal-title":"Eur J Med Genet"},{"key":"1165_CR77","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1186\/s13039-015-0162-3","volume":"8","author":"S Nishigaki","year":"2015","unstructured":"Nishigaki S, Hamazaki T, Saito M, Yamamoto T, Seto T, Shintaku H (2015) Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. Mol Cytogenet 8:54. https:\/\/doi.org\/10.1186\/s13039-015-0162-3","journal-title":"Mol Cytogenet"},{"key":"1165_CR78","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.arr.2016.05.009","volume":"33","author":"PL Opresko","year":"2017","unstructured":"Opresko PL, Shay JW (2017) Telomere-associated aging disorders. Ageing Res Rev 33:52\u201366. https:\/\/doi.org\/10.1016\/j.arr.2016.05.009","journal-title":"Ageing Res Rev"},{"key":"1165_CR79","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1002\/ajmg.1320570403","volume":"57","author":"CG Palmer","year":"1995","unstructured":"Palmer CG, Blouin JL, Bull MJ, Breitfeld P, Vance GH, Van Meter T, Weaver DD, Heerema NA, Colbern SG, Korenberg JR (1995) Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. Am J Med Genet 57:527\u2013536. https:\/\/doi.org\/10.1002\/ajmg.1320570403","journal-title":"Am J Med Genet"},{"key":"1165_CR80","doi-asserted-by":"publisher","first-page":"4645716","DOI":"10.1155\/2016\/4645716","volume":"2016","author":"CS Paththinige","year":"2016","unstructured":"Paththinige CS, Sirisena ND, Kariyawasam UG, Saman Kumara LP, Dissanayake VH (2016) Ring chromosome 4 in a child with multiple congenital abnormalities: a case report and review of the literature. Case Rep Genet 2016:4645716. https:\/\/doi.org\/10.1155\/2016\/4645716","journal-title":"Case Rep Genet"},{"key":"1165_CR81","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1038\/ng0595-117","volume":"10","author":"HA Phillips","year":"1995","unstructured":"Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC (1995) Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet 10:117\u2013118. https:\/\/doi.org\/10.1038\/ng0595-117","journal-title":"Nat Genet"},{"key":"1165_CR82","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1002\/ajmg.c.31530","volume":"172","author":"K Plona","year":"2016","unstructured":"Plona K, Kim T, Halloran K, Wynshaw-Boris A (2016) Chromosome therapy: potential strategies for the correction of severe chromosome aberrations. Am J Med Genet C Semin Med Genet 172:422\u2013430. https:\/\/doi.org\/10.1002\/ajmg.c.31530","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1165_CR83","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.rbmo.2011.05.013","volume":"23","author":"H Rajesh","year":"2011","unstructured":"Rajesh H, Freckmann ML, Chapman M (2011) Azoospermia and paternal autosomal ring chromosomes: case report and literature review. Reprod BioMed Online 23:466\u2013470. https:\/\/doi.org\/10.1016\/j.rbmo.2011.05.013","journal-title":"Reprod BioMed Online"},{"key":"1165_CR84","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/BF02869757","volume":"1","author":"MM Rhoades","year":"1935","unstructured":"Rhoades MM, McClintock B (1935) The cytogenetics of maize. Bot Rev 1:292\u2013235","journal-title":"Bot Rev"},{"key":"1165_CR85","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmg.18.3.209","volume":"18","author":"SB Riley","year":"1981","unstructured":"Riley SB, Buckton KE, Ratcliffe SG, Syme J (1981) Inheritance of a ring 14 chromosome. J Med Genet 18:209\u2013213","journal-title":"J Med Genet"},{"key":"1165_CR86","doi-asserted-by":"publisher","first-page":"2464","DOI":"10.1101\/gad.251041.114","volume":"28","author":"JD Robin","year":"2014","unstructured":"Robin JD, Ludlow AT, Batten K, Magdinier F, Stadler G, Wagner KR, Shay JW, Wright WE (2014) Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances. Genes Dev 28:2464\u20132476. https:\/\/doi.org\/10.1101\/gad.251041.114","journal-title":"Genes Dev"},{"key":"1165_CR87","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1136\/jmg.2007.054007","volume":"45","author":"E Rossi","year":"2008","unstructured":"Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T et al (2008a) Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet 45:147\u2013154. https:\/\/doi.org\/10.1136\/jmg.2007.054007","journal-title":"J Med Genet"},{"key":"1165_CR88","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1136\/jmg.2008.060442","volume":"45","author":"E Rossi","year":"2008","unstructured":"Rossi E, Messa J, Zuffardi O (2008b) Ring syndrome: still true? J Med Genet 45:766\u2013768. https:\/\/doi.org\/10.1136\/jmg.2008.060442","journal-title":"J Med Genet"},{"key":"1165_CR89","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1136\/jmg.2008.065052","volume":"46","author":"LR Rowe","year":"2009","unstructured":"Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST (2009) U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet 46:694\u2013702. https:\/\/doi.org\/10.1136\/jmg.2008.065052","journal-title":"J Med Genet"},{"key":"1165_CR90","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/genetics\/77.2.299","volume":"77","author":"L Sandler","year":"1974","unstructured":"Sandler L, Romans P, Figenshow J (1974) An effect of centromere function on the behavior of ring-X chromosomes in Drosophila melanogaster. Genetics 77:299\u2013307","journal-title":"Genetics"},{"key":"1165_CR91","doi-asserted-by":"crossref","DOI":"10.1515\/9783112329047","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"A Schinzel","year":"1983","unstructured":"Schinzel A (1983) Catalogue of unbalanced chromosome aberrations in man. De Gruyter, Berlin"},{"key":"1165_CR92","first-page":"914","volume":"36","author":"HR Slater","year":"1999","unstructured":"Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH (1999) Neocentromere formation in a stable ring 1p32-p36.1 chromosome. J Med Genet 36:914\u2013918","journal-title":"J Med Genet"},{"key":"1165_CR93","doi-asserted-by":"publisher","first-page":"134","DOI":"10.4238\/vol9-1gmr707","volume":"9","author":"CP Sodr\u00e9","year":"2010","unstructured":"Sodr\u00e9 CP, Guilherme RS, Meloni VF, Brunoni D, Juliano Y, Andrade JA, Belangero SI, Christofolini DM, Kulikowski LD, Melaragno MI (2010) Ring chromosome instability evaluation in six patients with autosomal rings. Genet Mol Res 9:134\u2013143. https:\/\/doi.org\/10.4238\/vol9-1gmr707","journal-title":"Genet Mol Res"},{"key":"1165_CR94","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1002\/ajmg.a.20184","volume":"121A","author":"MD Speevak","year":"2003","unstructured":"Speevak MD, Smart C, Unwin L, Bell M, Farrell SA (2003) Molecular characterization of an inherited ring (19) demonstrating ring opening. Am J Med Genet A 121A:141\u2013145. https:\/\/doi.org\/10.1002\/ajmg.a.20184","journal-title":"Am J Med Genet A"},{"key":"1165_CR95","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1756-8935-7-1","volume":"7","author":"C Surace","year":"2014","unstructured":"Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D\u2019Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S et al (2014) Telomere shortening and telomere position effect in mild ring 17 syndrome. Epigenetics Chromatin 7:1. https:\/\/doi.org\/10.1186\/1756-8935-7-1","journal-title":"Epigenetics Chromatin"},{"key":"1165_CR96","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/1477-7827-2-82","volume":"2","author":"HG Tempest","year":"2004","unstructured":"Tempest HG, Homa ST, Dalakiouridou M, Christopikou D, Wright D, Zhai XP, Griffin DK (2004) The association between male infertility and sperm disomy: evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs. Reprod Biol Endocrinol 2:82. https:\/\/doi.org\/10.1186\/1477-7827-2-82","journal-title":"Reprod Biol Endocrinol"},{"key":"1165_CR97","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1002\/ajmg.a.20225","volume":"121A","author":"H T\u00f6nnies","year":"2003","unstructured":"T\u00f6nnies H, Neumann LM, Gr\u00fcneberg B, Neitzel H (2003) Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. Am J Med Genet A 121A:163\u2013167. https:\/\/doi.org\/10.1002\/ajmg.a.20225","journal-title":"Am J Med Genet A"},{"key":"1165_CR98","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/1755-8166-4-5","volume":"4","author":"LP Tsai","year":"2011","unstructured":"Tsai LP, Lee KF, Fang JS, Liu IY (2011) Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7. Mol Cytogenet 4:5. https:\/\/doi.org\/10.1186\/1755-8166-4-5","journal-title":"Mol Cytogenet"},{"key":"1165_CR99","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.17.2.148","volume":"17","author":"R Tsukino","year":"1980","unstructured":"Tsukino R, Tsuda N, Dezawa T, Ishii T, Koike M (1980) Ring chromosome 10:46,XX,r(10)(p15 leads to q26). J Med Genet 17:148\u2013150","journal-title":"J Med Genet"},{"key":"1165_CR100","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/0531-5565(95)02025-X","volume":"31","author":"H Vaziri","year":"1996","unstructured":"Vaziri H, Benchimol S (1996) From telomere loss to p53 induction and activation of a DNA-damage pathway at senescence: the telomere loss\/DNA damage model of cell aging. Exp Gerontol 31:295\u2013301","journal-title":"Exp Gerontol"},{"key":"1165_CR101","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1034\/j.1399-0004.2002.620511.x","volume":"62","author":"JR Vermeesch","year":"2002","unstructured":"Vermeesch JR, Baten E, Fryns JP, Devriendt K (2002) Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clin Genet 62:415\u2013417","journal-title":"Clin Genet"},{"key":"1165_CR102","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.eplepsyres.2016.10.004","volume":"128","author":"A Vignoli","year":"2016","unstructured":"Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S et al (2016) Epilepsy in ring chromosome 20 syndrome. Epilepsy Res 128:83\u201393. https:\/\/doi.org\/10.1016\/j.eplepsyres.2016.10.004","journal-title":"Epilepsy Res"},{"key":"1165_CR103","first-page":"1153","volume":"52","author":"LE Voullaire","year":"1993","unstructured":"Voullaire LE, Slater HR, Petrovic V, Choo KH (1993) A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere? Am J Hum Genet 52:1153\u20131163","journal-title":"Am J Hum Genet"},{"key":"1165_CR104","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/1096-8628(20010722)102:1<86::AID-AJMG1390>3.0.CO;2-T","volume":"102","author":"L Voullaire","year":"2001","unstructured":"Voullaire L, Saffery R, Earle E, Irvine DV, Slater H, Dale S, du Sart D, Fleming T, Choo KH (2001) Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event. Am J Med Genet 102:86\u201394","journal-title":"Am J Med Genet"},{"key":"1165_CR105","doi-asserted-by":"publisher","first-page":"6787","DOI":"10.1093\/nar\/gkw422","volume":"44","author":"N Wietmarschen van","year":"2016","unstructured":"van Wietmarschen N, Lansdorp PM (2016) Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. Nucleic Acids Res 44:6787\u20136793. https:\/\/doi.org\/10.1093\/nar\/gkw422","journal-title":"Nucleic Acids Res"},{"key":"1165_CR106","first-page":"233","volume":"18","author":"AM Wray","year":"2007","unstructured":"Wray AM, Dennis TR, Ghidini A, Gorman B, Haddad BR, Meck JM (2007) Prenatal diagnosis of supernumerary ring chromosome 1: case report and review of the literature. Genet Couns 18:233\u2013241","journal-title":"Genet Couns"},{"key":"1165_CR107","doi-asserted-by":"publisher","first-page":"164","DOI":"10.3978\/j.issn.2224-4336.2015.03.04","volume":"4","author":"MY Yip","year":"2015","unstructured":"Yip MY (2015) Autosomal ring chromosomes in human genetic disorders. Transl Pediatr 4:164\u2013174. https:\/\/doi.org\/10.3978\/j.issn.2224-4336.2015.03.04","journal-title":"Transl Pediatr"},{"key":"1165_CR108","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1016\/j.ejmg.2012.03.009","volume":"55","author":"M Zollino","year":"2012","unstructured":"Zollino M, Ponzi E, Gobbi G, Neri G (2012) The ring 14 syndrome. Eur J Med Genet 55:374\u2013380. https:\/\/doi.org\/10.1016\/j.ejmg.2012.03.009","journal-title":"Eur J Med Genet"},{"key":"1165_CR109","doi-asserted-by":"publisher","first-page":"3709","DOI":"10.1091\/mbc.E04-03-0207","volume":"15","author":"Y Zou","year":"2004","unstructured":"Zou Y, Sfeir A, Gryaznov SM, Shay JW, Wright WE (2004) Does a sentinel or a subset of short telomeres determine replicative senescence? Mol Biol Cell 15:3709\u20133718. https:\/\/doi.org\/10.1091\/mbc.E04-03-0207","journal-title":"Mol Biol Cell"}],"container-title":["Protoplasma"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00709-017-1165-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00709-017-1165-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00709-017-1165-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,2]],"date-time":"2022-08-02T18:05:11Z","timestamp":1659463511000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00709-017-1165-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,12]]},"references-count":109,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["1165"],"URL":"https:\/\/doi.org\/10.1007\/s00709-017-1165-1","relation":{},"ISSN":["0033-183X","1615-6102"],"issn-type":[{"value":"0033-183X","type":"print"},{"value":"1615-6102","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,12]]}}}