{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:10:37Z","timestamp":1792289437648,"version":"4.4.0"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,5]]},"abstract":"<jats:p>A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.<\/jats:p>","DOI":"10.1136\/jmg.26.5.337","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"337-339","source":"Crossref","is-referenced-by-count":15,"title":["Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype."],"prefix":"10.1136","volume":"26","author":[{"given":"C E","family":"Wallis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P H","family":"Beighton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1989,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/ajmg.1320230307","article-title":"Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome","volume":"23","author":"Butler, M.G.; Meaney, F.J.; Palmer, C.Q.","year":"1986","unstructured":"Butler MG, Meaney FJ, Palmer CQ. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 1986;23:793-809.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1002\/ajmg.1320280413","article-title":"Clinical comparison of 59 Prader-Willi patients with and without the 15(Q12) deletion","volume":"28","author":"Wenger, S.L.; Hanchett, J.M.; Steele, M.W.; Maier, B.V.; Golden, W.L.","year":"1987","unstructured":"Wenger SL, Hanchett JM, Steele MW, Maier BV, Golden WL. Clinical comparison of 59 Prader-Willi patients with and without the 15(Q12) deletion. Am J Med Genet 1987;28:881-7.","journal-title":"Am J Med Genet"},{"key":"ref_3","first-page":"431","article-title":"Hypopigmentation in the Prader-Willi syndrome","volume":"40","author":"Wiesner, G.L.; Bendel, C.M.; Olds, D.P.","year":"1987","unstructured":"Wiesner GL, Bendel CM, Olds DP, et al. Hypopigmentation in the Prader-Willi syndrome. Am J Med Genet 1987;40:431-42.","journal-title":"Am J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/0002-9394(82)90358-0","article-title":"Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome","volume":"94","author":"Hitner, H.M.; King, R.A.; Riccardi, V.M.","year":"1982","unstructured":"Hitner HM, King RA, Riccardi VM, et al. Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am J Ophthalmol 1982;94:328-37.","journal-title":"Am J Ophthalmol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1056\/NEJM198606193142503","article-title":"Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation","volume":"314","author":"Creel, D.J.; Bendel, C.M.; Wiesner, G.L.; Wirtschafter, J.D.; Arthur, D.C.; King, R.A.","year":"1986","unstructured":"Creel DJ, Bendel CM, Wiesner GL, Wirtschafter JD, Arthur DC, King RA. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. N Engl J Med 1986;314:1606-9.","journal-title":"N Engl J Med"},{"key":"ref_6","first-page":"1964","article-title":"Hypopigmentation oculocutanee familiale A transmission dominante due a un trouble de la formation des melanosones. Association d'un syndrome de Prader-Willi et d'une anomalie chromosomique chez un des sujets atteints","volume":"107","author":"Frenk, E.; Calame, A.","year":"1977","unstructured":"Frenk E, Calame A. Hypopigmentation oculocutanee familiale A transmission dominante due a un trouble de la formation des melanosones. Association d'un syndrome de Prader-Willi et d'une anomalie chromosomique chez un des sujets atteints. Schweiz Med Wochenschr 1977;107:1964-8.","journal-title":"Schweiz Med Wochenschr"},{"key":"ref_7","first-page":"27","article-title":"The Prader-Willi syndrome and albinism","volume-title":"a black infant. Proc Greenwood Genetics Center 1988","volume":"7","author":"Phelan, M.C.; Albiez, K.L.; Flannery, D.B.; Stevenson, R.E.","unstructured":"Phelan MC, Albiez KL, Flannery DB, Stevenson RE. The Prader-Willi syndrome and albinism in a black infant. Proc Greenwood Genetics Center 1988;7:27-9."},{"key":"ref_8","article-title":"This male infant was the second child born to healthy Pakistani parents who are first cousins. The mother was 24 years old and the father 46 years. Their first child was a healthy female and the father has four healthy children from a previous marriage. The patient was born in 1984 by normal vaginal delivery at term after an uneventful pregnancy. Birth weight was 2550 g (3rd to 10th centile), length 50 cm (50th centile), and OFC 31-9 cm (10th to 25th centile). He was noted to have unusual facial features at birth with bilateral inner epicanthic folds, Received for publication 3","volume-title":"Revised version accepted for publication","year":"1988","unstructured":"This male infant was the second child born to healthy Pakistani parents who are first cousins. The mother was 24 years old and the father 46 years. Their first child was a healthy female and the father has four healthy children from a previous marriage. The patient was born in 1984 by normal vaginal delivery at term after an uneventful pregnancy. Birth weight was 2550 g (3rd to 10th centile), length 50 cm (50th centile), and OFC 31-9 cm (10th to 25th centile). He was noted to have unusual facial features at birth with bilateral inner epicanthic folds, Received for publication 3 September 1988. Revised version accepted for publication 11 November 1988."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.5.337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:49:54Z","timestamp":1759686594000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.5.337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,5]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1989,5,1]]},"published-print":{"date-parts":[[1989,5]]}},"alternative-id":["10.1136\/jmg.26.5.337"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.5.337","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,5]]}}}