{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:55Z","timestamp":1760906875713},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3787,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A newborn boy with a large anterior fontanel, minor facial anomalies, postaxial polydactyly, patent ductus arteriosus, and developmental delay had trisomy of 7p due to an i(7p) and a concomitant t(2;7) (q37.3; q11.1). Significant enlargement of the fontanel is the most characteristic finding in most patients with duplications involving 7p15\u2010pter. Asynchrony in fore\u2010 and hindbrain and hemisphere formation leading to brain asymmetry and various defects in the posterior fossa are typical of infants with duplications of 7p11\u2010p12. A variety of heart defects has also been found in more than 50% of patients with duplication of 7p segments.<\/jats:p><jats:p>Isochromosome formation accompanied by whole\u2010arm translocation, resulting in uniparental isodisomy for the involved segment, is an extremely rare cause leading to partial trisomies. Although it is not clear whether isochromosome formation precedes the whole\u2010arm translocation or follows it, the secondary rearrangement may have adaptive significance. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550117","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"62-66","source":"Crossref","is-referenced-by-count":24,"title":["Trisomy 7p resulting from isochromosome formation and whole\u2010arm translocation"],"prefix":"10.1002","volume":"55","author":[{"given":"Iosif W.","family":"Lurie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia F.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maimon M.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"127","article-title":"Trisomie 4p de novo par isochromosome 4p","volume":"19","author":"Andr\u00e9 M\u2010J","year":"1976","journal-title":"Ann Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400412"},{"key":"e_1_2_1_4_1","first-page":"543","article-title":"Trisomy 7p: association with several craniocerebral anomalies and spongy degeneration","volume":"82","author":"Omer F Bartoloni Saint","year":"1990","journal-title":"Pathologica"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83546-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.4.320"},{"key":"e_1_2_1_7_1","first-page":"A72","article-title":"Different recombinant chromosomes in two brothers with Vater syndrome traced to a pericentric inversion of chromosome 7 inherited from the maternal grandfather","volume":"45","author":"Burns JP","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","first-page":"493","article-title":"The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization","volume":"47","author":"Callen DF","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","first-page":"254","article-title":"Trisomy 7p due to a mosaic normal\/dir dup(7)(p13\u2192p22). 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