{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:40:08Z","timestamp":1760733608585,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:p>A 2-year-old boy with mental and growth retardation is presented; he has a 46,XY,r(10)(p15q26) chromosome complement. Five previously reported cases of ring chromosome 10 were reviewed and compared with the present case in an attempt to delineate a clinical syndrome. Since the first description, identified by Giemsa banding by Lansky et al, four other r(10) patients have been described. Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar creases, undescended testes, and hypoplastic scrotum. In some of the cases congenital heart disease was present.<\/jats:p>","DOI":"10.1136\/jmg.20.2.142","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"142-144","source":"Crossref","is-referenced-by-count":9,"title":["Ring chromosome 10 and its clinical features."],"prefix":"10.1136","volume":"20","author":[{"given":"H","family":"Nakai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Katsushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Yamazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Sakamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Tada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,4,1]]},"reference":[{"issue":"14","key":"ref_1","first-page":"61","article-title":"Physical retardation associated with ring chromosome mosaicism: 46, XX, r(l 0)\/ 45, XX,10-","volume":"1977","author":"Lansky, S.; Daniel, W.; Fleiszar, K.","unstructured":"Lansky S, Daniel W, Fleiszar K. Physical retardation associated with ring chromosome mosaicism: 46,XX,r(l 0)\/ 45,XX,10-.J MedGenet 1977-14:61-3.","journal-title":"J MedGenet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00293602","article-title":"Malformative syndrome associated with a ring 10 chromosome and a translocated 10q\/19 chromosome","volume":"43","author":"Fryns, J.P.; DeBoeck, K.; Jaeken, J.; Van den Berghe, H.","year":"1978","unstructured":"Fryns JP, DeBoeck K, Jaeken J, Van den Berghe H. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q\/19 chromosome. Hum Genet 1978;43:239-44.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/BF00278844","article-title":"Ring 10 chromosome: 46, XX","volume":"43","author":"Sparkes, R.S.; Ling, S.M.; Muller, H.","year":"1978","unstructured":"Sparkes RS, Ling SM, Muller H. Ring 10 chromosome: 46,XX,rlO(p15q26). Hum Genet 1978;43:341-5.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00287164","article-title":"Ring chromosome 10 associated with multiple congenital malformations","volume":"51","author":"Simoni, G.; Rossella, F.; Dalpra, L.; Visconti, G.; PiriaSchwarz, C.","year":"1979","unstructured":"Simoni G, Rossella F, Dalpra L, Visconti G, PiriaSchwarz C. Ring chromosome 10 associated with multiple congenital malformations. Hum Genet 1979;51:117-21.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"48","article-title":"Ring chromosome 10: 46, XX","volume":"17","author":"Tsukino, R.; Tsuda, N.; Dezawa, T.; Ishii, T.; Koike, M.","year":"1980","unstructured":"Tsukino R, Tsuda N, Dezawa T, Ishii T, Koike M. Ring chromosome 10: 46,XX,r(l0)(pl5q26). J Med Genet 1980;17:48-51.","journal-title":"J Med Genet"},{"article-title":"The patient is the only male child of unrelated, Received for publication","year":"1982","key":"ref_6","unstructured":"The patient is the only male child of unrelated, Received for publication 2 September 1982."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.2.142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:22:15Z","timestamp":1760732535000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.2.142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,4]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1983,4,1]]},"published-print":{"date-parts":[[1983,4]]}},"alternative-id":["10.1136\/jmg.20.2.142"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.2.142","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,4]]}}}