{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:38:09Z","timestamp":1760747889074,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,7]]},"abstract":"<jats:p>We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.<\/jats:p>","DOI":"10.1136\/jmg.28.7.497","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"497-498","source":"Crossref","is-referenced-by-count":5,"title":["Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome."],"prefix":"10.1136","volume":"28","author":[{"given":"M M","family":"Lai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"Spencer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Montandon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1136\/jmg.25.8.505","volume":"25","author":"Qazi, Q.; Kassner, E.G.","year":"1988","unstructured":"Qazi Q, Kassner EG. Triphalangeal thumb. J Med Genet 1988;25:505-20.","journal-title":"Triphalangeal thumb. J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1136\/jmg.19.6.412","article-title":"Spectrum of anomalies in Fanconi anaemia","volume":"19","author":"Glanz, A.; Fraser, F.C.","year":"1982","unstructured":"Glanz A, Fraser FC. Spectrum of anomalies in Fanconi anaemia. J Med Genet 1982;19:412-5.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3347","DOI":"10.1093\/nar\/17.9.3347","article-title":"Direct detection of point mutations by mismatch analysis: application to haemophilia B","volume":"17","year":"1989","unstructured":"Montandon AJ, Green PM, Giannelli F, Bentley DR. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res 1989;17:3347-58.","journal-title":"Nucleic Acids Res"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1302\/0301-620X.66B1.6693482","article-title":"Bilateral delta phalanx of the proximal phalanges of the great toes","volume":"66","author":"Neil, M.J.; Conacher, C.","year":"1984","unstructured":"Neil MJ, Conacher C. Bilateral delta phalanx of the proximal phalanges of the great toes. J Bone Joint Surg (Br) 1984;66: 77-80.","journal-title":"J Bone Joint Surg (Br)"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1111\/j.1469-1809.1988.tb01084.x","article-title":"Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes","volume":"52","author":"Jacobs, P.A.; Hassold, T.J.; Whittington, E.","year":"1988","unstructured":"Jacobs PA, Hassold TJ, Whittington E, et al. Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 1988;52: 93-109.","journal-title":"Ann Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1001\/archpedi.1971.02110010046003","article-title":"Radio-ulnar synostosis: a common occurrence in sex chromosomal abnormalities","volume":"122","author":"Jancu, J.","year":"1971","unstructured":"Jancu J. Radio-ulnar synostosis: a common occurrence in sex chromosomal abnormalities. Am J Dis Child 1971;122: 10-11.","journal-title":"Am J Dis Child"},{"key":"ref_7","first-page":"857","article-title":"Genomic imprinting. Review and relevance to human diseases","volume":"46","author":"Hall, J.G.","year":"1990","unstructured":"Hall JG. Genomic imprinting. Review and relevance to human diseases. Am J Hum Genet 1990;46:857-73.","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.7.497","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:24:24Z","timestamp":1760736264000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.7.497"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,7]]},"references-count":7,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1991,7,1]]},"published-print":{"date-parts":[[1991,7]]}},"alternative-id":["10.1136\/jmg.28.7.497"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.7.497","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,7]]}}}