{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:04:59Z","timestamp":1761717899076},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,1,8]],"date-time":"2003-01-08T00:00:00Z","timestamp":1041984000000},"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":[[2003,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 18q\u2010 syndrome is relatively common among cytogenetic abnormalities occurring in approximately 1 in 40,000 live births. However, interstitial deletions involving 18q12.2 to q21.1 are much less common. Only 15 cases have been reported in the literature. A phenotypic pattern is emerging of mild dysmorphic features, mental retardation, behavior abnormalities, and the lack of serious malformations. We present a 67\u2010year\u2010old woman with minor dysmorphic features, moderate mental retardation, hyperphagia, and del(18)(q12.2q21.1). This patient is presented for the natural history of this deletion syndrome as well as the behavioral phenotype. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10217","type":"journal-article","created":{"date-parts":[[2003,4,17]],"date-time":"2003-04-17T10:01:57Z","timestamp":1050573717000},"page":"66-70","source":"Crossref","is-referenced-by-count":22,"title":["Long\u2010term survival in a patient with del(18)(q12.2q21.1)"],"prefix":"10.1002","volume":"119A","author":[{"given":"Brad T.","family":"Tinkle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol A.","family":"Christianson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth K.","family":"Schorry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Webb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,1,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.4.353"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430307"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<280::AID-AJMG12>3.0.CO;2-N"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO;2-Z"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<409::AID-AJMG11>3.0.CO;2-S"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430306"},{"key":"e_1_2_7_8_1","first-page":"146","article-title":"Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases","volume":"35","author":"Poissonnier M","year":"1992","journal-title":"Ann Genet"},{"key":"e_1_2_7_9_1","first-page":"883","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.5.352"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410105"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.62"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.9.635"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030207"}],"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.10217","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:30:37Z","timestamp":1697617837000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,8]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,5,15]]}},"alternative-id":["10.1002\/ajmg.a.10217"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10217","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,8]]}}}