{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:07:25Z","timestamp":1787242045525,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4130,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1 \u2192 12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y\u201019\u20101D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to 8p22, did not differ from controls with normal chromosomal constitution. DNA studies using the Defensin 1 gene probe, which maps to 8p23, showed a previously undetected deletion of that segment. We propose that the inverted tandem duplication\/deletion arose as a single U\u2010type exchange within an inversion loop. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490406","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:57:00Z","timestamp":1118494620000},"page":"384-387","source":"Crossref","is-referenced-by-count":29,"title":["U\u2010type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8"],"prefix":"10.1002","volume":"49","author":[{"given":"John J.","family":"Mitchell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Luscombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hayden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Richter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Kojis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordon","family":"Watters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vazken M.","family":"Der Kaloustian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03335.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00424.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02985.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04256.x"},{"key":"e_1_2_1_6_1","first-page":"207","article-title":"Inverted tandem duplication of the short arm of chromosome 8: A non\u2010random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1","volume":"25","author":"Jensen PKA","year":"1982","journal-title":"Ann Genet"},{"key":"e_1_2_1_7_1","first-page":"47","article-title":"Partial duplication 8p due to interstitial duplication: inv dup (8) (P21.1 p22). Further delineation of the phenotype from birth to adulthood","volume":"30","author":"Kleczkowska A","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287049"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.2.135"},{"key":"e_1_2_1_10_1","first-page":"5","article-title":"Chromosome 8: trisomie compl\u00e8te et trisomies segmentaires","volume":"20","author":"Rethor\u00e9 M\u2010O","year":"1977","journal-title":"Ann Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90052-9"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010103"},{"key":"e_1_2_1_13_1","first-page":"710","article-title":"Chromosome assignment of cathepsin B (CTSB) to 8p22 and cathepsin H (CTSH) to 15q24\u2010q25","volume":"46","author":"Wang X","year":"1987","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00352327"},{"key":"e_1_2_1_15_1","first-page":"241","article-title":"Duplication\u2010deficiency of the short arm of chromosome 8 following artificial insemination","volume":"19","author":"Weleber RG","year":"1976","journal-title":"Ann 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.1320490406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T21:58:00Z","timestamp":1698098280000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2,15]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,2,15]]}},"alternative-id":["10.1002\/ajmg.1320490406"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490406","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2,15]]}}}