{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:29:05Z","timestamp":1753439345327},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5938,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two patients with mosaic tetrasomy of 8p[46,XY\/47,XY,+i(8p)], a previously unreported cytogenetic anomaly. The first patient had a low percentage of tetrasomic (secondary trisomic) cells in lymphocytes and fibroblasts, an only mildly abnormal phenotype, and a rather benign clinical course. The second patient had a considerably larger percentage of tetrasomic cells in lymphocytes and fibroblasts, and had more severe congenital anomalies that led to his death at 8 months. A characteristic phenotype +i(8p) is suggested but not yet established. The manifestations of these two patients resemble those of mosaic trisomy 8 and mosaic trisomy 8p, with rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles.<\/jats:p>","DOI":"10.1002\/ajmg.1320320309","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:28:16Z","timestamp":1118546896000},"page":"320-324","source":"Crossref","is-referenced-by-count":22,"title":["Secondary trisomy or mosaic \u201ctetrasomy\u201d 8p"],"prefix":"10.1002","volume":"32","author":[{"given":"Meinhard","family":"Robinow","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Haney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Sorauf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel L.","family":"Van Dyke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. Ramesh","family":"Babu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Powell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Maliszewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Guerin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janes W.","family":"Landers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"2","article-title":"Killian syndrome,\u201d Pallister mosaic syndrome, or mosaic tetrasomy?","volume":"1","author":"Buyse ML","year":"1983","journal-title":"J Clin Dysmorph"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(82)90007-3"},{"key":"e_1_2_1_4_1","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1984"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.11.1594"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01217.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02832.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-96327-8"},{"key":"e_1_2_1_9_1","first-page":"187","article-title":"Tetrasomy 18p: A distinctive syndrome","volume":"27","author":"Rivera H","year":"1984","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-51620-7"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282012"},{"key":"e_1_2_1_12_1","volume-title":"The Cytogenetics of Mammalian Autosomal Rearrangements","author":"Van Dyke DL","year":"1988"},{"key":"e_1_2_1_13_1","first-page":"75","article-title":"Parental age, and how extra isochromosomes (secondary trisomy) arise","volume":"31","author":"Van Dyke DL","year":"1987","journal-title":"Clin 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.1320320309","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T12:45:17Z","timestamp":1697978717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1002\/ajmg.1320320309"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320309","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}