{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:04Z","timestamp":1761717904908},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,4,11]],"date-time":"2003-04-11T00:00:00Z","timestamp":1050019200000},"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":[[2003,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 3\u2010year\u2010old boy with a moderate to severe mental retardation, autistic behavior patterns, and myoclonic epilepsy of early childhood. The cytogenetic analysis of blood lymphocytes revealed a deletion of chromosome 20pter\u2009\u2192\u2009p12.2 occurring as mosaicism in 8% of the analyzed metaphases: 46,XY[123]\/46,XY,del(20)(pter\u2009\u2192\u2009p12.2)[10]. The deletion was confirmed by the recently developed multicolor banding approach and additionally by region specific fluorescence in situ hybridization (FISH) probes. To the best of our knowledge, this is the first report on a patient with autistic behavior with terminal 20p deletion mosaicism reported up to present. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20089","type":"journal-article","created":{"date-parts":[[2003,7,23]],"date-time":"2003-07-23T10:12:06Z","timestamp":1058955126000},"page":"533-536","source":"Crossref","is-referenced-by-count":22,"title":["Autistic disorder and chromosomal mosaicism 46,XY[123]\/46,XY,del(20)(pter\u2009\u2192\u2009p12.2)[10]"],"prefix":"10.1002","volume":"120A","author":[{"given":"S.","family":"Sauter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"von Beust","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Burfeind","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Weise","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Starke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Zoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,4,11]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"533","article-title":"Maternal UPD 20 in a hyperactive child with severe growth retardation","volume":"7","author":"Chudoba I","year":"1999","journal-title":"Eur J Med Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03420.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.86"},{"key":"e_1_2_6_5_1","first-page":"234","article-title":"46,XX\/46,XX,del(20)(pter\u2009\u2192\u2009p12.2) mosaicism limited to fibroblasts associated with MCA\/MR and severe growth deficit","volume":"35","author":"Fryns JP","year":"1992","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026004505764"},{"key":"e_1_2_6_7_1","first-page":"335","article-title":"Microdissection based high resolution multicolor banding for all 24 human chromosomes","volume":"9","author":"Liehr T","year":"2002","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026056522602"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.158"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<369::AID-PD33>3.0.CO;2-S"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026060623511"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/515485"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041444-200106000-00001"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1401"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.434"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20089","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T14:14:53Z","timestamp":1696947293000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4,11]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,8]]}},"alternative-id":["10.1002\/ajmg.a.20089"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20089","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4,11]]}}}