{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:46:44Z","timestamp":1760906804273},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,7,10]],"date-time":"2002-07-10T00:00:00Z","timestamp":1026259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24\u2010q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10626","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T03:13:20Z","timestamp":1034133200000},"page":"217-220","source":"Crossref","is-referenced-by-count":13,"title":["Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24\u2010q25 due to a terminal duplication"],"prefix":"10.1002","volume":"112","author":[{"given":"Brendan D.","family":"Kelly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Becker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Kermode","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond L.","family":"Stallings","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond P.","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J.","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hillery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,7,10]]},"reference":[{"issue":"6","key":"e_1_2_5_2_1","first-page":"287","article-title":"Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder","volume":"14","author":"Berberich MS","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220203"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.577"},{"key":"e_1_2_5_5_1","first-page":"231","article-title":"Partial trisomy 17q and monosomy 9p due to a familial translocation","volume":"33","author":"Cotter PD","year":"1990","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569357"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080113"},{"key":"e_1_2_5_8_1","first-page":"175","article-title":"Partial duplication of 17 long arm","volume":"31","author":"Lenzini E","year":"1988","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6058"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170313"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.7.465"},{"key":"e_1_2_5_12_1","first-page":"61","article-title":"De novo distal trisomy 17q","volume":"28","author":"Orye E","year":"1985","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442311"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<87::AID-AJMG16>3.0.CO;2-T"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.4.258"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03454.x"},{"key":"e_1_2_5_17_1","first-page":"224","article-title":"De novo concurrent 5p deletion and distal 17q duplication identified by fluorescence in situ hybridization (FISH)","volume":"36","author":"Szego K","year":"1993","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00849.x"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.5.395"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10626","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10626","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T04:50:33Z","timestamp":1697431833000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,10]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["10.1002\/ajmg.10626"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10626","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,10]]}}}