{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T15:49:42Z","timestamp":1772812182680,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9649,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rep t(1;18) (q42;p11).<\/jats:p><jats:p>The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities.<\/jats:p><jats:p>Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.<\/jats:p>","DOI":"10.1002\/ajmg.1320040105","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:32:04Z","timestamp":1118511124000},"page":"27-37","source":"Crossref","is-referenced-by-count":30,"title":["Multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families"],"prefix":"10.1002","volume":"4","author":[{"given":"Ruth M.","family":"Liberfarb","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Roy","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonard","family":"Atkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lewis B.","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"561","article-title":"Identification of translocation chromosomes by quinacrine fluorescence","volume":"123","author":"Breg WR","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281032"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287020"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01512.x"},{"key":"e_1_2_1_6_1","first-page":"473","article-title":"Short arm deletion of chromosome 18 in cebocephaly","volume":"115","author":"Gorlin RJ","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01935.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00281010","article-title":"Trisomy of the long arm of human chromosome 1","volume":"25","author":"Norwood TH","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_9_1","first-page":"371","article-title":"Partial trisomy 1 due to a \u201cshift\u201d and possible location of the Duffy (Fy) locus","volume":"29","author":"Palmer CG","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284810"},{"key":"e_1_2_1_11_1","first-page":"75A","article-title":"Partial trisomy 1q in 3 patients","volume":"26","author":"Sanger A","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390432"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290601"},{"key":"e_1_2_1_14_1","first-page":"191","article-title":"Reduced phenotypic effect of partial trisomy 1q in an X\/1 translocation","volume":"20","author":"Zuffardi O","year":"1977","journal-title":"Ann G\u00e9n\u00e9t"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320040105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320040105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:55:19Z","timestamp":1699836919000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320040105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320040105"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320040105","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}