{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:26Z","timestamp":1764171806343},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,12,2]],"date-time":"2004-12-02T00:00:00Z","timestamp":1101945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>OTC deficiency, the most common urea cycle defect, is transmitted as a partially dominant X\u2010linked trait. The most severe form of the disease, however, is usually restricted to males. We report on monozygotic female twins with severe neonatal\u2010onset OTC deficiency and a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Disruption of the <jats:italic>OTC<\/jats:italic> gene on the derivative X\u2010chromosome was confirmed by FISH analysis. Consistent inactivation of the normal X could be demonstrated by RGB staining. Manifestation of X\u2010linked recessive disorders in females due to a balanced reciprocal X\u2010autosome translocation has previously been described in Duchenne muscular dystrophy and several other disorders but not in OTC deficiency. This report emphasizes the importance of chromosome analysis in any female manifesting severe OTC deficiency. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30414","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T01:16:37Z","timestamp":1102036597000},"page":"185-188","source":"Crossref","is-referenced-by-count":5,"title":["Severe, neonatal\u2010onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)"],"prefix":"10.1002","volume":"132A","author":[{"given":"Martin","family":"Zenker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bendicht","family":"Wermuth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Udo","family":"Trautmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ina","family":"Knerr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,12,2]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1909","volume-title":"The metabolic and molecular bases of inherited disease","author":"Brusilow SW","year":"2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/322291b0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132078"},{"issue":"2","key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1093\/oxfordjournals.jbchem.a122265","article-title":"Structure of the human ornithine transcarbamylase gene","volume":"103","author":"Hata A","year":"1988","journal-title":"J Biochem (Tokyo)"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550511.x"},{"issue":"1","key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000468870","article-title":"Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency","volume":"45","author":"Liechti\u2010Gallati S","year":"1991","journal-title":"Enzyme"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6494904"},{"issue":"2","key":"e_1_2_7_10_1","first-page":"191","article-title":"Ornithine transcarbamylase deficiency: New sites with increased probability of mutation","volume":"95","author":"Oppliger Leibundgut EO","year":"1995","journal-title":"Hum Genet"},{"issue":"1","key":"e_1_2_7_11_1","first-page":"160","article-title":"Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy","volume":"60","author":"Quan F","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1203"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420205"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3145"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221953"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005397329395"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100465"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1998.5440415.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30414","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:20:13Z","timestamp":1697646013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,2]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,1,15]]}},"alternative-id":["10.1002\/ajmg.a.30414"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30414","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,2]]}}}