{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,13]],"date-time":"2024-04-13T13:31:25Z","timestamp":1713015085454},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4450,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An infant with multiple anomalies including small head, Large apparently low\u2010set ears, beaked nose, micrognathia, choanal stenosis, proptosis, atrial\u2010septal defect, and left inguinal hernia was found, on chromosome analysis, to have a longer than normal terminal band 4p16 by G and R\u2010banding. In situ hybridization of biotin\u2010labeled DNA probes C39, BJ14, BJ54, BJ19, BJ7, and BJ11 showed them to be duplicated. Probes I14, A157.1, and the telomeric sequence, (TTAGGG)n, which hybridized to the more distal part of 4p16.3, were not duplicated. These result confirm the impression by G and R\u2010banding of a duplication within band 4p16, a region extending from approximately 2.1 Mb from the telomere, proximally, to the junction of 4p16.1 and 4p15.3. This is the smallest confirmed duplication of distal 4p reported to date, with many of the classical findings of dup(4p) syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460112","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:56:24Z","timestamp":1118537784000},"page":"72-76","source":"Crossref","is-referenced-by-count":15,"title":["Characterization of a duplication in the terminal band of 4p by molecular cytogenetics"],"prefix":"10.1002","volume":"46","author":[{"given":"Herman E.","family":"Wyandt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terry","family":"Lerner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcy","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soloman","family":"Adekunle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aubrey","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90226-5"},{"key":"e_1_2_1_3_1","first-page":"1235","article-title":"Molecular confirmation of Wolf\u2010Hirschhorn syndrome with a subtle translocation of chromosome 4","volume":"49","author":"Altherr MR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"7","article-title":"Defined limits of the Huntington disease gene candidate region","volume":"49","author":"Bates GP","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080409"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00953.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010202"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90204-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132030"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2294592"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.5.344"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.256"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00087.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(77)90052-3"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.1.53"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01233207"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.7.2.164"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:33Z","timestamp":1698278433000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1002\/ajmg.1320460112"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460112","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}