{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:40:10Z","timestamp":1759689610452,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,4]]},"abstract":"<jats:p>A further case of Down-mosaic Turner syndrome is discussed. Both the cytogenetic and the dermatoglyphic data support the clinical diagnosis. The association with dislocated knees and the diagnosis of this polysyndrome at birth have not been reported before.<\/jats:p>","DOI":"10.1136\/jmg.18.2.148","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":10,"title":["Congenital dislocation of the knees in a child with Down-mosaic Turner syndrome"],"prefix":"10.1136","volume":"18","author":[{"given":"A R","family":"Gatrad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,4,1]]},"reference":[{"key":"ref_1","first-page":"713","article-title":"Osseous malformations associated with chromsomal abnormalities. Orthop Clin North Anm","volume":"3","author":"Weiss, L.; Reynolds, W.A.","year":"1972","unstructured":"Weiss L, Reynolds WA. Osseous malformations associated with chromsomal abnormalities. Orthop Clin North Anm 1972;3:713-31."},{"key":"ref_2","first-page":"91","article-title":"Dermatoglyphs in sex chromosome anomalies","volume":"23","author":"Saldaina-Garcia, P.","year":"1977","unstructured":"Saldaina-Garcia P. Dermatoglyphs in sex chromosome anomalies. J Ment Defic Res 1977;23:91-104.","journal-title":"J Ment Defic Res"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1001\/archpedi.1975.02120460048012","article-title":"Double aneuploidy","volume":"129","author":"Townes, P.L.; White, M.R.; Stiffler, S.J.; Goh, Kong-oo","year":"1975","unstructured":"Townes PL, White MR, Stiffler SJ, Kong-oo Goh. Double aneuploidy. Am J Dis Child 1975;129:1062-5.","journal-title":"Am J Dis Child"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/S0022-3476(64)80020-2","article-title":"Double aneuploidy: trisomy 21 and XO\/XX sex chromosome mosaicism","volume":"65","author":"Root, A.W.; Bongiovanni, A.M.; Briebarts, S.; Mellman, W.J.","year":"1964","unstructured":"Root AW, Bongiovanni AM, Briebarts S, Mellman WJ. Double aneuploidy: trisomy 21 and XO\/XX sex chromosome mosaicism. J Pediatr 1964;65:937-9.","journal-title":"J Pediatr"},{"key":"ref_5","first-page":"156","article-title":"A double chromosomal aberration of the 47, XX,21 + \/47, XXp - q -,21 + type in a girl with features of Down's and Turner's syndromes","volume":"5","author":"Mikel'saar, A.V.N.; Blyumina, M.G.; Kuznetsova, L.I.; Mikel'saar, R.V.A.; Lur'e, IV","year":"1971","unstructured":"Mikel'saar AVN, Blyumina MG, Kuznetsova LI, Mikel'saar RVA, Lur'e IV. A double chromosomal aberration of the 47,XX,21 + \/47,XXp - q -,21 + type in a girl with features of Down's and Turner's syndromes. Genetika 1971;5:156-61.","journal-title":"Genetika"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1001\/jama.1975.03260210052026","article-title":"Turnermongolism polysyndrome, Review of the first eight known cases","volume":"234","author":"Villaverde, M.M.; Jacynths, A.; Da Silva, A.","year":"1975","unstructured":"Villaverde MM, Jacynths A, Da Silva A. Turnermongolism polysyndrome, Review of the first eight known cases. JAMA 1975;234:844-7.","journal-title":"JAMA"},{"key":"ref_7","first-page":"644","article-title":"Mosaic double aneuploidy of X and G chromosomes","volume":"79","author":"Singh, D.N.; Osborne, R.A.; Hennigar, G.R.; Bornett, C.D.","year":"1975","unstructured":"Singh DN, Osborne RA, Hennigar GR, Bornett CD. Mosaic double aneuploidy of X and G chromosomes. Am J Ment Defic 1975;79:644-7.","journal-title":"Am J Ment Defic"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/BF02597489","article-title":"Beitrage zur Pathologic und Therapic der Angeboremen Kniegelenkssubluxatisen","volume":"23","author":"Kopits, E.","year":"1925","unstructured":"Kopits E. Beitrage zur Pathologic und Therapic der Angeboremen Kniegelenkssubluxatisen. Arch Orthop Unfallchir 1925;23:593-609.","journal-title":"Arch Orthop Unfallchir"},{"key":"ref_9","unstructured":"The proband, born in 1962, was the product of a term gestation and normal delivery. Birthweight and length were not recorded; however, he was smaller than his normal sibs. Bilateral hexadactyly, broad right hallux, acrocyanosis, the presence of teeth, and dyspnoea were observed at birth. Psychomotor retardation was evident from early infancy and he tilted his head to the left when he started walking at about 4 years of age. Excision of the supernumerary right finger was performed at 10 years of age.","article-title":"The proband, born in 1962, was the product of a term gestation and normal delivery. Birthweight and length were not recorded; however, he was smaller than his normal sibs. Bilateral hexadactyly, broad right hallux, acrocyanosis, the presence of teeth, and dyspnoea were observed at birth. Psychomotor retardation was evident from early infancy and he tilted his head to the left when he started walking at about 4 years of age. Excision of the supernumerary right finger was performed at 10 years of age"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.2.148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:00:24Z","timestamp":1759687224000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.2.148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,4]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1981,4,1]]},"published-print":{"date-parts":[[1981,4]]}},"alternative-id":["10.1136\/jmg.18.2.148"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.2.148","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,4]]}}}