{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:23:50Z","timestamp":1780327430424,"version":"3.54.1"},"reference-count":6,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,6]]},"abstract":"<jats:p>A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven generations, of whom 182 are affected. It appears that a founder effect in this village has led to this extensive kindred. This condition is inherited as an autosomal dominant trait with variable expressivity and an estimated penetrance of 96%. Penetrance is different between the upper (96%) and lower (69.5%) extremities. No excess of affected males or females or other associated features were documented in this condition. Variations in the involvement of one or both hands, upper or lower extremities, bone and soft tissue, as well as variation in the affected subjects of two successive generations were documented. We also noted that metacarpal and metatarsal involvement and middle phalangeal hypoplasia of the feet are the consistent features of SPD and, therefore, should be considered as characteristic of this phenotype. We observed four different phenotypes in various branches of the Derbent kindred: (1) subjects presenting typical features of SPD; (2) subjects exhibiting both pre- and post-axial polydactyly simultaneously; (3) persons manifesting postaxial polydactyly type A; and (4) subjects born to two affected parents with severe hand and foot deformities that have not been previously described in any other SPD families (that is, homozygotes). A total of 27 affected offspring were born to two such affected parents, of whom seven are expected to be homozygous for the SPD gene. This group is presented in an accompanying paper in this issue of the Journal. A molecular study is currently under way to identify the chromosomal location of the defective gene.<\/jats:p>","DOI":"10.1136\/jmg.32.6.421","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"421-434","source":"Crossref","is-referenced-by-count":33,"title":["A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data."],"prefix":"10.1136","volume":"32","author":[{"given":"B S","family":"Sayli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A N","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Sayli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Akhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Sarfarazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1995,6,1]]},"reference":[{"key":"ref_1","first-page":"301","article-title":"The genetics of hand malformations. In: Birth defects: original article senres. Volume XIV (3)","author":"Temtamy, S.A.; McKusick, V.A.","year":"1978","unstructured":"Temtamy SA, McKusick VA. The genetics of hand malformations. In: Birth defects: original article senres. Volume XIV (3). New York: Alan R Lss, 1978:301-22."},{"key":"ref_2","article-title":"Mendelian inheritance in man. Catalogue No 186000","author":"McKusick, V.A.","unstructured":"McKusick VA. Mendelian inheritance in man. Catalogue No 186000. 10th ed. Baltimore: The Johns Hopkins University Press, 1992: 1047.","edition":"10th ed"},{"key":"ref_3","first-page":"542","article-title":"Case report 636. Tetrapolysyndactyly with postaxial type of polydactyly","volume":"19","author":"Sener, R.N.","year":"1990","unstructured":"Sener RN. Case report 636. Tetrapolysyndactyly with postaxial type of polydactyly. Skeletal Radiol 1990;19:542-6.","journal-title":"Skeletal Radiol"},{"key":"ref_4","first-page":"96","article-title":"Syndactylies and polydactylies; embryological Hunt Genet overview and suggested","volume":"1","author":"Winter, R.M.; Tickle, C.","year":"1993","unstructured":"Winter RM, Tickle C. Syndactylies and polydactylies; embryological Hunt Genet overview and suggested 1993;1:96-104."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/j.0954-6820.1926.tb12297.x","article-title":"Einige Eigentuemlichkeiten der erblichen Polyund Syndaktylie bei Menschen","volume":"65","author":"0, Thomsen","year":"1927","unstructured":"Thomsen 0. Einige Eigentuemlichkeiten der erblichen Polyund Syndaktylie bei Menschen. Acta Med Scand 1927;65:609-44.","journal-title":"Acta Med Scand"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1399-0004.1977.tb00929.x","article-title":"A family with syndactyly type II (synpolydactyly)","volume":"12","author":"Ridler, M.A.C.; Laxova, R.; Dewhurst, K.; Saldana Garcia, P.","year":"1977","unstructured":"Ridler MAC, Laxova R, Dewhurst K, Saldana Garcia P. A family with syndactyly type II (synpolydactyly). Clin Genet 1977;12:213-20.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.6.421","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:32:31Z","timestamp":1759725151000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.6.421"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6]]},"references-count":6,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1995,6,1]]},"published-print":{"date-parts":[[1995,6]]}},"alternative-id":["10.1136\/jmg.32.6.421"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.6.421","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6]]}}}