{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T01:29:29Z","timestamp":1721957369108},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith\u2013Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The finger\u2010pads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320410219","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:45Z","timestamp":1118547945000},"page":"225-229","source":"Crossref","is-referenced-by-count":19,"title":["Diagnostic hand anomalies in Smith\u2013Magenis syndrome: Four new patients with del (17)(p11.2p11.2)"],"prefix":"10.1002","volume":"41","author":[{"given":"Ikuko","family":"Kondo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinya","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuko","family":"Kuwajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Midori","family":"Tokashiki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Izumikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Naritomi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Niikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kajii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1990.tb02372.x"},{"key":"e_1_2_1_3_1","first-page":"184","article-title":"Interstitial deletion of (17) (p11.). A microdeletion syndrome. Another example","volume":"32","author":"de Almeida JCC","year":"1989","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_4_1","first-page":"36","article-title":"Interstitial deletion of 17p11.: Case report and review","volume":"31","author":"Hamill MA","year":"1988","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.732"},{"key":"e_1_2_1_7_1","first-page":"732","article-title":"Genetic studies on total ridge\u2010count among Japanese","volume":"17","author":"Matsuda E","year":"1973","journal-title":"Jpn J Human Genet"},{"key":"e_1_2_1_8_1","first-page":"43","article-title":"Dermatoglyphic study of Down's syndrome in Japan","volume":"13","author":"Matsui I","year":"1966","journal-title":"Paediatr Univ Tokyo"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01912484"},{"key":"e_1_2_1_10_1","first-page":"861","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273011"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260228"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240303"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240305"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(57)80005-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410219","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:13:48Z","timestamp":1698041628000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,11]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,11]]}},"alternative-id":["10.1002\/ajmg.1320410219"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410219","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,11]]}}}