{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:40:19Z","timestamp":1760766019166,"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":[[1980,4]]},"abstract":"<jats:p>Cytogenetic analysis of an 8-month-old Japanese girl with moderate retardation of physical development was performed and a ring chromosome 10, 46,XX,r(10)(p15\u2192q26), was found. She had short stature, mildly stubby nose, antimongoloid slants, and moderately protruding ears. The extremities showed erythrocyanosis, oedema, and pigmentation. Lansky <jats:italic>et al<\/jats:italic>\n                  <jats:sup>1<\/jats:sup> was the first to describe ring chromosome 10 with a Turner-like phenotype. Only two other cases<jats:sup>2 3<\/jats:sup> have been reported so far and little is known about this syndrome. This is the report of a fourth case.<\/jats:p>","DOI":"10.1136\/jmg.17.2.148","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"148-151","source":"Crossref","is-referenced-by-count":18,"title":["Ring chromosome 10: 46,XX,r(10)(p15\u2192q26)"],"prefix":"10.1136","volume":"17","author":[{"given":"Ryuichi","family":"Tsukino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norihiko","family":"Tsuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tohru","family":"Dezawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michio","family":"Koike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1136\/jmg.14.1.61","volume":"14","author":"XX, 10","year":"1977","unstructured":"\/45,XX,10-. J Med Genet 1977;14:61-3.","journal-title":"J Med Genet"},{"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 lOp\/19 chromosome","volume":"43","author":"Fryns, J.P.; De Boeck, K.; Jaeken, J.; van den Berghe, H.","year":"1978","unstructured":"Fryns JP, De Boeck K, Jaeken J, van den Berghe H. Malformative syndrome associated with a ring 10 chromosome and a translocated lOp\/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, r(10) (pl5q26)","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,r(10) (pl5q26). Hum Genet 1978;43:341-5.","journal-title":"Hum Genet"},{"key":"ref_4","article-title":"In: Mendelian inheritance in man","author":"McKusick, V.A.","year":"1978","unstructured":"McKusick VA. In: Mendelian inheritance in man. 5th ed. Baltimore: Johns Hopkins University Press, 1978.","edition":"5th ed"},{"key":"ref_5","unstructured":"SUMMARY A black female with abnormal skin pigmentation, similar to that seen in hypomelanosis of Ito, and triphalangeal thumbs is presented. This association has not previously been reported.","article-title":"SUMMARY A black female with abnormal skin pigmentation, similar to that seen in hypomelanosis of Ito, and triphalangeal thumbs"},{"key":"ref_6","unstructured":"Incontinentia pigmenti achromians, or hypomelanosis of Ito, a neurocutaneous syndrome which includes hypopigmented areas of the skin in whorls, streaks, and patches, occurring either bilaterally or unilaterally, was first described in 1952 by Ito.1","article-title":"Incontinentia pigmenti achromians, or hypomelanosis of Ito, a neurocutaneous syndrome which includes hypopigmented areas of the skin in whorls, streaks, and patches, occurring either bilaterally or unilaterally, was first described in 1952 by Ito.1"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.2.148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:07:06Z","timestamp":1760764026000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.2.148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,4]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1980,4,1]]},"published-print":{"date-parts":[[1980,4]]}},"alternative-id":["10.1136\/jmg.17.2.148"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.2.148","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,4]]}}}