{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T23:03:44Z","timestamp":1781651024378,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3535,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,9,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2\u2010p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis\/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3\u2010pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter\u2192p23.1::p23.1\u2192p11.2:). Our findings sugest that most cases of inv dup(8p) probably have a telomeric deletion. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580307","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:08:26Z","timestamp":1118513306000},"page":"230-236","source":"Crossref","is-referenced-by-count":49,"title":["Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization"],"prefix":"10.1002","volume":"58","author":[{"given":"Wen\u2010Jun","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faith","family":"Callif\u2010Daley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Carmen","family":"Zapata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marvin E.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500315"},{"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":"10.1002\/ajmg.1320470410"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00424.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02985.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04256.x"},{"key":"e_1_2_1_8_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_9_1","first-page":"47","article-title":"Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1\u2013p22)","volume":"30","author":"Kleczkowska A","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_10_1","first-page":"668","article-title":"De novo truncation of chromosome 16p and healing with (TTAGGG)n in the \u03b1\u2010thalassemia\/mental retardation syndrome (ATR\u201016)","volume":"52","author":"Lamb J","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287049"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247342"},{"issue":"4","key":"e_1_2_1_13_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 (abstract)","volume":"49","author":"Mitchell J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490406"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/353454a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.2.135"},{"key":"e_1_2_1_17_1","first-page":"530","article-title":"Two cases with a de novo inverted duplication of a segment of chromosome 8","volume":"19","author":"Poloni L","year":"1981","journal-title":"Clin Genet"},{"key":"e_1_2_1_18_1","first-page":"5","article-title":"Chromosome 8: Trisomie complete et trisomies segmentaries","volume":"20","author":"Rethor\u00e9 MO","year":"1977","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010103"},{"key":"e_1_2_1_20_1","first-page":"241","article-title":"Duplication deficiency 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_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/346868a0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T20:08:24Z","timestamp":1698350904000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,9,11]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,9,11]]}},"alternative-id":["10.1002\/ajmg.1320580307"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580307","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,9,11]]}}}