{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T11:54:17Z","timestamp":1792756457985,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7124,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of 1q. Characteristic manifestations include round face with prominent \u201ccupid's bow\u201d and downturned corners of the mouth, thin vermilion borders of lips, long upper lip with smooth philtrum, short and broad nose, epicanthal folds, apparently low\u2010set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac, genital, and other anomalies, moderate to severe mental retardation, and growth retardation. The deletion includes 1q42 or 1q43\u2192qter and was a de novo defect in nine of 15 cases.<\/jats:p>","DOI":"10.1002\/ajmg.1320220405","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:01:11Z","timestamp":1118505671000},"page":"685-694","source":"Crossref","is-referenced-by-count":39,"title":["Deletion of the distal long arm of chromosome 1: A definable syndrome"],"prefix":"10.1002","volume":"22","author":[{"given":"Virginia P.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis J.","family":"Heck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy A.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon O.","family":"Flom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278878"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286898"},{"key":"e_1_2_1_4_1","first-page":"125A","article-title":"Double neural tube defects in two siblings; New features of chromosome 1 deletion syndrome\u20101q43","volume":"34","author":"Golabi M","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"455","article-title":"New deletion syndrome: del 1 q43","volume":"33","author":"Juberg RC","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291316"},{"key":"e_1_2_1_7_1","first-page":"91","article-title":"Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations","volume":"35","author":"Ku\u010derov\u00e1 M","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","volume-title":"Terminal (1)(q43) long arm deletion of chromosome no.1 in a three\u2010year\u2010old female","author":"Mankinen CB","year":"1976"},{"issue":"5","key":"e_1_2_1_8_2","first-page":"132","volume":"11","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS \u00d7"},{"key":"e_1_2_1_9_1","first-page":"729","article-title":"Deleccion del brazo largo del chromosoma 1: 46, XY, del(1)(q42)","volume":"11","author":"Molina M","year":"1978","journal-title":"An Esp Pedia"},{"key":"e_1_2_1_10_1","first-page":"154","article-title":"A 1q42 deletion in a Vietnamese infant","volume":"25","author":"Neu RL","year":"1982","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_11_1","first-page":"2500","article-title":"De novo deletion hos en mentalt retarderet dreng","volume":"143","author":"Nielsen LB","year":"1981","journal-title":"Ugeskr Laeger"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0001566000009971"},{"key":"e_1_2_1_13_1","first-page":"161","article-title":"La monosomie 1q distale, deux nouvelles observations et description du syndrome","volume":"23","author":"Turleau C","year":"1983","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_14_1","first-page":"544","article-title":"1q deletion syndrome","volume":"19","author":"Zabel BU","year":"1981","journal-title":"Clin Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320220405","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320220405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T12:34:37Z","timestamp":1697805277000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320220405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,12]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1985,12]]}},"alternative-id":["10.1002\/ajmg.1320220405"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320220405","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,12]]}}}