{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:40:34Z","timestamp":1787244034328,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4587,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A\n                    <jats:italic>de novo<\/jats:italic>\n                    chromosome aberration in a woman with severe mental retardation and minor anomalies has been characterized cytogenetically. The patient's karyotype was described as 46, XX, inv dup (8)(p12 \u2192 p23.1). Previous Southern blot dosage studies with the marker locus D8S7 demonstrated that the patient was monosomic for this locus, suggesting that the rearrangement generated a duplication\u2010deficiency chromosome. We have reinvestigated this patient using fluorescent\n                    <jats:italic>in situ<\/jats:italic>\n                    hybridization with chromosome 8 cosmids and an Alu\u2010PCR product specific for 8p. These studies have confirmed directly that the duplicated chromosome also has undergone deletion. \u00a9 1992 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.1320440517","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:29:22Z","timestamp":1118492962000},"page":"615-618","source":"Crossref","is-referenced-by-count":16,"title":["Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization"],"prefix":"10.1002","volume":"44","author":[{"given":"Karen G.","family":"Henderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred J.","family":"Dill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Wood","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":"10.1016\/0888-7543(90)90207-B"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03335.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00424.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02985.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 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","doi-asserted-by":"publisher","DOI":"10.1016\/0022-1759(81)90183-6"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205163"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/1050-3862(91)90005-C"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790090"},{"issue":"4","key":"e_1_2_1_11_1","first-page":"286","article-title":"Molecular and biochemical evidence for an interstitial deletion associated with an inverted tandem duplication of the short arm of chromosome 8. ICHG8","volume":"49","author":"Mitchell J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/353454a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.23.9138"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010103"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90491-V"},{"key":"e_1_2_1_16_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"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/346868a0"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132262"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133260"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440517","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440517","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T07:18:21Z","timestamp":1698045501000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440517"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,11,15]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1992,11,15]]}},"alternative-id":["10.1002\/ajmg.1320440517"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440517","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,11,15]]}}}