{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:18:03Z","timestamp":1760833083643,"version":"build-2065373602"},"reference-count":23,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,3]]},"abstract":"<jats:p>We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers have been identified and all manifest features of the Saethre-Chotzen syndrome, although only two have overt craniosynostosis. In one family the carriers are immediately recognisable by their unusual ears, and clefts of the hard or soft palate are present in all three families. These observations extend previous linkage and cytogenetic evidence that a locus for Saethre-Chotzen syndrome resides in band 7p21.2.<\/jats:p>","DOI":"10.1136\/jmg.32.3.174","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"174-180","source":"Crossref","is-referenced-by-count":23,"title":["Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families."],"prefix":"10.1136","volume":"32","author":[{"given":"A O","family":"Wilkie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S P","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Summers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M D","family":"Poole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Reardon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,3,1]]},"reference":[{"key":"ref_1","first-page":"190","article-title":"The SaethreChotzen syndrome","volume":"2","author":"Pantke, O.A.; MM, Jr, Cohen; CJ, Jr, Witkop","year":"1975","unstructured":"Pantke OA, Cohen MM Jr, Witkop CJ Jr, et al. The SaethreChotzen syndrome. Birth Defects 1975;XI(2):190-225.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/S0022-3476(77)80892-5","article-title":"Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations","volume":"91","author":"Friedman, J.M.; Hanson, J.W.; Graham, C.B.; Smith, D.W.","year":"1977","unstructured":"Friedman JM, Hanson JW, Graham CB, Smith DW. Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. J Pediatr 1977;91:929-33.","journal-title":"J Pediatr"},{"key":"ref_3","first-page":"413","article-title":"Syndromes with craniosynostosis. In: Craniosynostosis: diagnosis, evaluation, and management","author":"MM, Jr, Cohen","year":"1986","unstructured":"Cohen MM Jr. Syndromes with craniosynostosis. In: Craniosynostosis: diagnosis, evaluation, and management. New York: Raven Press, 1986:413-590."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1136\/jmg.31.5.393","article-title":"Saethre-Chotzen syndrome","volume":"31","author":"Reardon, W.; Winter, R.M.","year":"1994","unstructured":"Reardon W, Winter RM. Saethre-Chotzen syndrome. Jf Med Genet 1994;31:393-6.","journal-title":"Jf Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jmg.19.4.280","article-title":"A family study of craniosynostosis, with probable recognition of a distinct syndrome","volume":"19","author":"Carter, C.O.; Till, K.; Fraser, V.; Coffey, R.","year":"1982","unstructured":"Carter CO, Till K, Fraser V, Coffey R. A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet 1982;19:280-5.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1136\/jmg.28.2.117","article-title":"Pitfalls in counselling: the craniosynostoses","volume":"28","author":"Marini, R.; Temple, K.; Chitty, L.; Genet, S.; Baraitser, M.","year":"1991","unstructured":"Marini R, Temple K, Chitty L, Genet S, Baraitser M. Pitfalls in counselling: the craniosynostoses. J Med Genet 1991;28:117-2 1.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1136\/jmg.29.10.681","article-title":"The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p","volume":"29","author":"Brueton, L.A.; van Herwerden, L.; Chotai, K.A.; Winter, R.M.","year":"1992","unstructured":"Brueton LA, van Herwerden L, Chotai KA, Winter RM. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 1992;29:681-5.","journal-title":"J Med Genet"},{"key":"ref_8","first-page":"115","article-title":"Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion ofJackson-Weiss and Crouzon syndrome loci from 7p","volume-title":"Genomics","volume":"19","author":"Lewanda, A.F.; MM, Jr, Cohen; Jackson, C.E.","year":"1994","unstructured":"Lewanda AF, Cohen MM Jr, Jackson CE, et al. Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion ofJackson-Weiss and Crouzon syndrome loci from 7p. Genomics 1994;19: 115-9."},{"key":"ref_9","first-page":"669","article-title":"Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7pand exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q","volume":"54","author":"van Herwerden L; CSP, Rose; W, Reardon","year":"1994","unstructured":"van Herwerden L, Rose CSP, Reardon W, et al. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7pand exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet 1994;54:669-74.","journal-title":"Am J Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1002\/ajmg.1320470510","article-title":"Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p2l.2","volume":"47","author":"Reardon, W.; McManus, S.P.; Summers, D.; Winter, R.M.","year":"1993","unstructured":"Reardon W, McManus SP, Summers D, Winter RM. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p2l.2. Am JMed Genet 1993;47:633-6.","journal-title":"Am JMed Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ajmg.1320470511","article-title":"Saethre-Chotzen syndrome with familial translocation at chromosome 7p22","volume":"47","author":"Reid, C.S.; McMorrow, L.E.; McDonald-McGinn, D.M.","year":"1993","unstructured":"Reid CS, McMorrow LE, McDonald-McGinn DM, et al. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet 1993;47:637-9.","journal-title":"Am J Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/ajmg.1320490119","article-title":"Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6; 7) translocation","volume":"49","author":"al","year":"1994","unstructured":"Tsuji K, Narahara K, Kikkawa K, et al. Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. Am Jf Med Genet 1994;49:98-102.","journal-title":"Am Jf Med Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/ajmg.1320400412","article-title":"Chromosome 7psyndrome: craniosynostosis with preservation of region 7p2","volume":"40","author":"Aughton, D.J.; Cassidy, S.B.; Whiteman, D.A.H.; Delach, J.A.; Guttmacher, A.E.","year":"1991","unstructured":"Aughton DJ, Cassidy SB, Whiteman DAH, Delach JA, Guttmacher AE. Chromosome 7psyndrome: craniosynostosis with preservation of region 7p2. Am J Med Genet 1991;40:440-3.","journal-title":"Am J Med Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/ajmg.1320510320","article-title":"Six cases of 7p deletion: clinical, cytogenetic and molecular studies","volume":"51","author":"Chotai, K.A.; Brueton, L.A.; van Herwerden, L.","year":"1994","unstructured":"Chotai KA, Brueton LA, van Herwerden L, et al. Six cases of 7p deletion: clinical, cytogenetic and molecular studies. Am IMed Genet 1994;51:270-6.","journal-title":"Am IMed Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1136\/jmg.25.7.491","article-title":"Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome","volume":"25","author":"Kurczynski, T.W.; Casperson, S.M.","year":"1988","unstructured":"Kurczynski TW, Casperson SM. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. 7 Med Genet 1988;25:491-3.","journal-title":"7 Med Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1136\/jmg.26.8.522","article-title":"Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?","volume":"26","author":"Legius, E.; Fryns, J.P.; van den Berghe, H.","year":"1989","unstructured":"Legius E, Fryns JP, van den Berghe H. Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? J Med Genet 1989;26:522-4.","journal-title":"J Med Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jmg.21.5.369","article-title":"Parietal foramina in Saethre-Chotzen syndrome","volume":"21","author":"Thompson, E.M.; Baraitser, M.; Hayward, R.D.","year":"1984","unstructured":"Thompson EM, Baraitser M, Hayward RD. Parietal foramina in Saethre-Chotzen syndrome. J Med Genet 1984; 21:369-72.","journal-title":"J Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jmg.22.5.413-a","article-title":"Parietal foramina in the Saethre-Chotzen syndrome","volume":"22","author":"Young, I.D.; Swift, P.G.F.","year":"1985","unstructured":"Young ID, Swift PGF. Parietal foramina in the Saethre-Chotzen syndrome. J Med Genet 1985;22:413-4.","journal-title":"J Med Genet"},{"key":"ref_19","first-page":"99","article-title":"Acrocephalopolysyndactyly, type Noack, in a large kindred","author":"Robinow, M.; Sorauf, T.J.","year":"1975","unstructured":"Robinow M, Sorauf TJ. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects 1975;11 (5):99-106.","journal-title":"Birth Defects"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1136\/jmg.19.4.286","article-title":"An unusual form of familial acrocephalosyndactyly","volume":"19","author":"Young, I.D.; Harper, P.S.","year":"1982","unstructured":"Young ID, Harper PS. An unusual form of familial acrocephalosyndactyly. J Med Genet 1982;19:286-8.","journal-title":"J Med Genet"},{"key":"ref_21","first-page":"215","article-title":"Neurologic aspects of craniosynostosis","volume-title":"diagnosis, evaluation and management","author":"Camfield, P.R.; Camfield, C.S.","year":"1986","unstructured":"Camfield PR, Camfield CS. Neurologic aspects of craniosynostosis. In: Cohen MM Jr, ed. Craniosynostosis: diagnosis, evaluation and management. New York: Raven Press, 1986: 215-26."},{"key":"ref_22","first-page":"1405","article-title":"Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p2l.2","volume-title":"Hum Mol Genet","volume":"3","author":"Rose, C.S.P.; King, A.A.J.; Summers, D.","year":"1994","unstructured":"Rose CSP, King AAJ, Summers D, et al. Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p2l.2. Hum Mol Genet 1994; 3:1405-8."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/3.3.489","article-title":"Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers","volume":"3","author":"Green, E.D.; Idol, JR, Mohr-Tidwell; R.M.","year":"1994","unstructured":"Green ED, Idol JR, Mohr-Tidwell RM, et al. Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum Mol Genet 1994;3:489-501.","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.3.174","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:50:36Z","timestamp":1760773836000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.3.174"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,3]]},"references-count":23,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1995,3,1]]},"published-print":{"date-parts":[[1995,3]]}},"alternative-id":["10.1136\/jmg.32.3.174"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.3.174","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1995,3]]}}}