{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T00:00:03Z","timestamp":1794268803298,"version":"4.9.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,3,12]],"date-time":"2008-03-12T00:00:00Z","timestamp":1205280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,5]]},"abstract":"<jats:p>A great number of syndromes and inborn errors of metabolism associated with impaired development have been observed, but the aetiology of mental retardation remains unclear in a considerable proportion of cases. Here, we present the clinical and molecular data from a patient with a new <jats:italic>de novo<\/jats:italic> subtelomeric deletion on chromosome 20 [46,XX.ish del(20)(qter\u2010)]. For further refinement, bacterial artificial chromosome clones are used. The deletion spans exactly two genes called <jats:italic>MYT1<\/jats:italic> and <jats:italic>PCMTD2<\/jats:italic>. Both genes play an important role in myelination and regulating neural differentiation. Loss of these two genes seems to be responsible for the severe mental retardation and mild facial dysmorphic features in our young patient. It might show the phenotypic picture of this specified deletion.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.00982.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:20:05Z","timestamp":1232706005000},"page":"492-495","source":"Crossref","is-referenced-by-count":26,"title":["Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the <i>myelin transcription factor 1<\/i> gene (<i>MYT1<\/i>)"],"prefix":"10.1111","volume":"73","author":[{"given":"T","family":"Kroepfl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Petek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Schwarzbraun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PM","family":"Kroisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Plecko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,7]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/glia.440140407"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2003.10.001"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_5_5_2","doi-asserted-by":"crossref","first-page":"72","DOI":"10.2144\/97231bm15","article-title":"Isolation of site specific probes from chimeric YACs","volume":"23","author":"Petek E","year":"1997","journal-title":"BioTechniques"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.401"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.321.7271.1240"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30142"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.171"},{"issue":"22","key":"e_1_2_5_10_2","first-page":"1366","article-title":"Partial monosomy 20q: a new syndrome. Regional assignment of the ADA locus on 20q132","volume":"58","author":"Fraisse J","year":"1982","journal-title":"Sem Hop"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10751"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.12.12.5632"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00103"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2005.03131.x"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050161"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2008.00982.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2008.00982.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T06:59:15Z","timestamp":1696921155000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2008.00982.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,7]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,5]]}},"alternative-id":["10.1111\/j.1399-0004.2008.00982.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2008.00982.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,7]]}}}