{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:04Z","timestamp":1764171724552},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,1,18]],"date-time":"2002-01-18T00:00:00Z","timestamp":1011312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Scientific Board of Health Affairs","award":["383\/99KO"],"award-info":[{"award-number":["383\/99KO"]}]},{"name":"National Fund of Science and Research","award":["29888","32556"],"award-info":[{"award-number":["29888","32556"]}]},{"name":"Swiss National Foundation","award":["32-56051.98"],"award-info":[{"award-number":["32-56051.98"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A girl with psychomotor retardation and a pattern of minor anomalies was found to have a slightly enlarged short arm of chromosome 18 by conventional GTG\u2010banded chromosome examination. The 18p\u2009+\u2009chromosome has also been found in the father. FISH studies using chromosome 18\u2013and chromosome 20\u2013specific painting probes confirmed a reciprocal whole arm translocation between chromosomes 18 and 20 in the father, resulting in monosomy of the short arm of chromosome 18 and trisomy of the short arm chromosome 20 in the patient. FISH analysis using a chromosome 18 alpha\u2010satellite\u2013specific probe showed a reduced signal intensity. The patient presented with a flat, oval face, upslanting palpebral fissures, periorbital fullness, and mental retardation; she also had chronic diarrhea with milk protein intolerance and juvenile rheumatoid arthritis at age 5 years. Juvenile rheumatoid arthritis, like several other immunologic disorders, has occasionally been reported in patients with deletion of 18p, and thus most likely loss of a gene or genes on 18p is responsible for various immunologic disorders occurring in these patients. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10243","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"226-228","source":"Crossref","is-referenced-by-count":12,"title":["Patient with rheumatoid arthritis and MCA\/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)"],"prefix":"10.1002","volume":"108","author":[{"given":"M\u00e1rta","family":"Czak\u00f3","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Morava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Kosztol\u00e1nyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,1,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440314"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450106"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01482.x"},{"key":"e_1_2_5_5_1","first-page":"164","article-title":"Vitamin B12 deficiency in an 18p\u2212 patient","volume":"105","author":"Goh K","year":"1981","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.722"},{"key":"e_1_2_5_7_1","first-page":"49A","article-title":"The association of autoimmune disorders with 18p\u2212 syndrome","volume":"26","author":"Kistenmacher ML","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500210"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/SQB.1986.051.01.018"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(69)91112-X"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80234-9"},{"key":"e_1_2_5_12_1","volume-title":"Catalogue of unbalanced chromosome aberrations in humans","author":"Schinzel A","year":"2001"},{"key":"e_1_2_5_13_1","first-page":"315","article-title":"Sindrome da delezione del braccio corto del cromosoma 18 associata ad acidosi tubulare prossimale, in paziente con sindrome nefrosica da nefropatia glomerulare a lesioni minimi","volume":"8","author":"Sernia O","year":"1982","journal-title":"Riv Ital Pediatr"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090404"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570416"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225197"},{"key":"e_1_2_5_17_1","first-page":"364","article-title":"Probable deletion of the short arm of chromosome 18","volume":"16","author":"Van Dyke HE","year":"1964","journal-title":"Am J Hum 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.10243","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T12:54:26Z","timestamp":1700225666000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1,18]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3,15]]}},"alternative-id":["10.1002\/ajmg.10243"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10243","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1,18]]}}}