{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:47:19Z","timestamp":1787237239739,"version":"build-2736575974"},"reference-count":18,"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":4283,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported infrequently, and no syndrome has been previously identified. All 8 patients on whom birth histories were available were hypotonic at birth, and had feeding difficulties in the neonatal period. All patients have significant developmental delay. Manifestaions present in 5 or more patients were prominent forehead, high arched palate, large mouth with a thin upper lip, malformed and\/or apparently lowset ears, broad nasal bridge, dental and skeletal abnormalities, and joint laxity or hyperextensibility. Variation in the phenotype may, in part, be explained by the different breakpoints. Recurrence risks of de novo rearrangements are probably very low, but for the recombinants the risk may be significant.<\/jats:p>\n                  <jats:p>\n                    The duplication appeared to be\n                    <jats:italic>de novo<\/jats:italic>\n                    in 6 patients (both parental karyotypes were normal); maternal karyotypes were normal in 2 patients, and both parrents of 1 patient were not available. One propositus had a monocentric recombinant of a paracentric inv(8) (p12p23.3) carried by the mother, and is one of only 6 known cases of duplication associated with a balanced paracentric inversion in a parent. The carrier parent was the mother in 5 of those 6 cases. Each case involved a different chromosome, and each probably was created by an unusual meiotic recombination event.\n                  <\/jats:p>\n                  <jats:p>Inverted duplication 8p is one of the most common duplications observed in our laboratories, and ranks in frequency with the classical deletions, such as Wolf\u2010Hirschhorn and cri\u2010du\u2010chat syndromes and duplication or secondary trisomy 15ql. Since 1\/7 cases with complete parental karyotypes was associated with a familial rearrangement, parental karyotype studies should be considered in all cases of tandem duplication. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470410","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:34:21Z","timestamp":1118493261000},"page":"482-486","source":"Crossref","is-referenced-by-count":36,"title":["Inverted duplication of 8p: Ten new patients and review of the literature"],"prefix":"10.1002","volume":"47","author":[{"given":"Gerald L.","family":"Feldman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lester","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary C.","family":"Phelan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Schroer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"VanDyke","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","first-page":"487","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1984"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04256.x"},{"key":"e_1_2_1_7_1","first-page":"207","article-title":"Inverted tandem duplication of the short arm of chromosome 8: 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_8_1","first-page":"47","article-title":"Partial duplication 8p due to interstitial duplication: inv dup(8) (p21.1\u2192p22)","volume":"30","author":"Kleczkowska A","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287049"},{"key":"e_1_2_1_10_1","first-page":"615","volume-title":"The Cytogenetics of Mammalian Autosomal Rearrangements","author":"Maraschio P","year":"1988"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.2.135"},{"key":"e_1_2_1_12_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_13_1","first-page":"5","article-title":"Chromosome 8: Trisomie complete et trisomies segmentaires","volume":"20","author":"Rethore M\u2010O","year":"1977","journal-title":"Ann Genet"},{"key":"e_1_2_1_14_1","first-page":"313","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_15_1","first-page":"913","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010103"},{"key":"e_1_2_1_17_1","first-page":"635","volume-title":"The Cytogenetics of Mammalian Autosomal Rearrangements","author":"Van Dyke DL","year":"1988"},{"key":"e_1_2_1_18_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_19_1","first-page":"115","article-title":"A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics and molecular analysis of centromeres","volume":"44","author":"Worsham MJ","year":"1989","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.1320470410","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T08:19:52Z","timestamp":1698221992000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9,15]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,9,15]]}},"alternative-id":["10.1002\/ajmg.1320470410"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470410","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9,15]]}}}