{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:17:47Z","timestamp":1760833067750,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,3]]},"abstract":"<jats:p>Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.<\/jats:p>","DOI":"10.1136\/jmg.12.1.104","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"104-105","source":"Crossref","is-referenced-by-count":4,"title":["Trisomy 13 and Rubinstein-Taybi syndrome."],"prefix":"10.1136","volume":"12","author":[{"given":"F P","family":"Garcia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L Y","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Fox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Gribetz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,3,1]]},"reference":[{"issue":"2","key":"ref_1","first-page":"25","article-title":"The broad thumbs syndrome. Progress report 1968. Birth Defects: Original Article","volume":"5","author":"Rubinstein, J.H.","year":"1969","unstructured":"Rubinstein, J. H. (1969). The broad thumbs syndrome. Progress report 1968. Birth Defects: Original Article Series, 5, pt. 2, 25-41. National Foundation-March of Dimes, New York.","journal-title":"Series"},{"key":"ref_2","first-page":"638","article-title":"The 18 trisomy and D, trisomy syndrome. In Endocrine and Genetic Diseases of Childhood, ed. by Lytt I","author":"Smith, D.W.","year":"1969","unstructured":"Smith, D. W. (1969). The 18 trisomy and D, trisomy syndrome. In Endocrine and Genetic Diseases of Childhood, ed. by Lytt I. Gardner, pp. 638-652."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/S0022-3476(68)80118-0","article-title":"Rubinstein-Taybi and D1 trisomy syndromes","volume":"73","author":"Wilson, M.G.","year":"1968","unstructured":"Wilson, M. G. (1968). Rubinstein-Taybi and D1 trisomy syndromes. Journal of Pediatrics, 73, 404-408.","journal-title":"Journal of Pediatrics"},{"key":"ref_4","article-title":"There are at least five known cases (including this case) of trisomy 13 associated with broad thumbs and first toes","volume-title":"H. Fox, personal communication). Since an initial diagnosis of Rubinstein-Taybi syndrome was made in four of these infants, it is important for clinicians to be aware that trisomy 13 syndrome may mimic Rubinstein-Taybi syndrome. It is possible that both syndromes may coexist in the same individual. However, since the prognosis of trisomy 13 is so much worse than that of Rubinstein-Taybi syndrome, the diagnosis of tri","year":"1968","unstructured":"There are at least five known cases (including this case) of trisomy 13 associated with broad thumbs and first toes (Wilson, 1968; H. Fox, personal communication). Since an initial diagnosis of Rubinstein-Taybi syndrome was made in four of these infants, it is important for clinicians to be aware that trisomy 13 syndrome may mimic Rubinstein-Taybi syndrome. It is possible that both syndromes may coexist in the same individual. However, since the prognosis of trisomy 13 is so much worse than that of Rubinstein-Taybi syndrome, the diagnosis of tri-"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.1.104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:57:12Z","timestamp":1760770632000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.1.104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,3]]},"references-count":4,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1975,3,1]]},"published-print":{"date-parts":[[1975,3]]}},"alternative-id":["10.1136\/jmg.12.1.104"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.1.104","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,3]]}}}