{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:38:05Z","timestamp":1790257085248,"version":"4.1.0"},"reference-count":71,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ring chromosome 20 is a rare chromosome disorder characterized by a typical seizure phenotype consisting of complex partial seizures, frequent progression to generalized tonic or tonic\u2010clonic seizures, and nocturnal frontal lobe seizures with frequent episodes of non\u2010convulsive status epilepticus. Development may be normal or mildly delayed, followed by cognitive and behavioral decline after seizure onset. Here, we describe a patient with a typical severe seizure phenotype and a mosaic ring chromosome 20 without loss of p or q subtelomere regions or telomeric sequences. The ring had a longer telomere length than either of the telomere ends of its homologous chromosome 20 by quantitative fluorescence in situ hybridization analysis, suggesting that it might be derived from telomere\u2013telomere fusion. The phenotypic comparison of this patient and other chromosome 20 cases that had terminal deletions of 20qter (n\u2009=\u20091) and 20pter (n\u2009=\u20097), shows that the epilepsy phenotype and electroencephalographic abnormalities are characteristic in patients with ring chromosome 20. Several hypotheses have been proposed to address the elusive mechanisms underlying the seizure disorder in ring chromosome 20. These possibilities include haploinsufficiency of two epilepsy genes <jats:italic>CHRNA4<\/jats:italic> and <jats:italic>KCNQ2<\/jats:italic> located at 20qter, silencing of these genes by a telomere position effect, or microdeletions or rearrangements of genetic material during the ring formation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31332","type":"journal-article","created":{"date-parts":[[2006,7,12]],"date-time":"2006-07-12T00:46:29Z","timestamp":1152665189000},"page":"1696-1706","source":"Crossref","is-referenced-by-count":40,"title":["Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review"],"prefix":"10.1002","volume":"140A","author":[{"given":"Ying S.","family":"Zou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"Van Dyke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik C.","family":"Thorland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harinderpal S.","family":"Chhabra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia V.","family":"Michels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeannette G.","family":"Keefe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie A.","family":"Lega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly A.","family":"Feely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy S.","family":"Uphoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed M.","family":"Jalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30675"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30437"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10159"},{"key":"e_1_2_7_5_1","first-page":"151","article-title":"De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris","volume":"12","author":"Barajas\u2010Barajas L","year":"2001","journal-title":"Genet Couns"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30276"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062329"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30242"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000132840.40838.13"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03837.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.10.804"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1998.tb01443.x"},{"key":"e_1_2_7_13_1","first-page":"923","article-title":"Autosomal dominant nocturnal frontal lobe epilepsy\u2014A critical overview","volume":"252","author":"Combi R","year":"2004","journal-title":"J Neurol"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20299"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02452.x"},{"key":"e_1_2_7_16_1","first-page":"231","article-title":"The cytogenetic and clinical implications of a ring chromosome 2","volume":"24","author":"Cote G","year":"1981","journal-title":"Ann Genet"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00012"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.9.e32"},{"key":"e_1_2_7_19_1","unstructured":"DemosM ConnollyM ArmstrongL EydouxP.2005.A unique interstital deletion involving chromosome 20q in a child with microcephaly and behavioral difficulties. 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