{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T02:39:31Z","timestamp":1787625571970,"version":"build-2736575974"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1993,6,1]],"date-time":"1993-06-01T00:00:00Z","timestamp":738892800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1993,6]]},"DOI":"10.1038\/ng0693-170","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:59:26Z","timestamp":1092862766000},"page":"170-174","source":"Crossref","is-referenced-by-count":156,"title":["Assignment of an autosomal sex reversa\u2013 locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3\u2013q25.1"],"prefix":"10.1038","volume":"4","author":[{"given":"N.","family":"Tommerup","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Schempp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bolund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Goodpasture","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Guldberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.R.","family":"Held","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Reinwein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.D.","family":"Saugstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Skjeldal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Toder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Westvik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.B.","family":"van der Hagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0693170_CR1","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1038\/348448a0","volume":"348","author":"P Berta","year":"1990","unstructured":"Berta, P. et al. Genetic evidence equating SRY and the testis-determining factor. Nature 348, 448\u2013450 (1990).","journal-title":"Nature"},{"key":"BFng0693170_CR2","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1038\/348452a0","volume":"348","author":"RJ J\u00e4ger","year":"1990","unstructured":"J\u00e4ger, R.J. et al. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348, 452\u2013454 (1990).","journal-title":"Nature"},{"key":"BFng0693170_CR3","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1038\/346240a0","volume":"346","author":"AH Sinclair","year":"1990","unstructured":"Sinclair, A.H. et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346, 240\u2013244 (1990).","journal-title":"Nature"},{"key":"BFng0693170_CR4","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/346245a0","volume":"346","author":"J Gubbay","year":"1990","unstructured":"Gubbay, J. et al. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346, 245\u2013250 (1990).","journal-title":"Nature"},{"key":"BFng0693170_CR5","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1038\/348450a0","volume":"348","author":"P Koopman","year":"1990","unstructured":"Koopman, P., M\u00fcnsterberg, A., Capel, B., Vivian, N. & Lovell-Badge, R. Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348, 450\u2013452 (1990).","journal-title":"Nature"},{"key":"BFng0693170_CR6","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/BF00284155","volume":"58","author":"JL Simpson","year":"1981","unstructured":"Simpson, J.L., Blagowidow, N. & Martin, A.O. XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis. Hum. Genet. 58, 91\u201397 (1981).","journal-title":"Hum. Genet."},{"key":"BFng0693170_CR7","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1002\/ajmg.1320150103","volume":"15","author":"CS Houston","year":"1983","unstructured":"Houston, C.S. et al. The campomelic syndrome: review, report of 17 cases, and followup on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am. J. med. Genet. 15, 3\u201328 (1983).","journal-title":"Am. J. med. Genet."},{"key":"BFng0693170_CR8","first-page":"233","volume":"34","author":"C Ebensperger","year":"1991","unstructured":"Ebensperger, C. et al. No evidence of mutations in four candidate genes for male sex determination\/differentiation in sex-reversed XY females with campomelic dysplasia. Ann. G\u00e9n\u00e9t. 34, 233\u2013238 (1991).","journal-title":"Ann. G\u00e9n\u00e9t."},{"key":"BFng0693170_CR9","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1399-0004.1991.tb03050.x","volume":"39","author":"R Maraia","year":"1991","unstructured":"Maraia, R., Saal, H.M. & Wangsa, D. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clin. Genet. 39, 401\u2013408 (1991).","journal-title":"Clin. Genet."},{"key":"BFng0693170_CR10","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1136\/jmg.29.4.251","volume":"29","author":"ID Young","year":"1992","unstructured":"Young, I.D., Zuccollo, J.M., Maltby, E.L. & Broderick, N.J. Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J. med. Genet. 29, 251\u2013252 (1992).","journal-title":"J. med. Genet."},{"key":"BFng0693170_CR11","doi-asserted-by":"publisher","first-page":"526","DOI":"10.3109\/00313028509105515","volume":"17","author":"CT Cooke","year":"1985","unstructured":"Cooke, C.T. et al. Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. Pathology 17, 526\u2013529 (1985).","journal-title":"Pathology"},{"key":"BFng0693170_CR12","first-page":"311","volume":"6","author":"W Engel","year":"1968","unstructured":"Engel, W., Reinwein, H., Bombel, D., Ritter, H. & Wolf, U. Multiple Missbildungen bei einem M\u00e4dchen mit dem Karyotypus 46,XY,17q+. Humangenetik 6, 311\u2013325 (1968).","journal-title":"Humangenetik"},{"key":"BFng0693170_CR13","first-page":"311","volume":"10","author":"H Reinwein","year":"1967","unstructured":"Reinwein, H. & Wolf, U. Radiological examinations of patients with autosomal aberrations. Ann. Radiol. 10, 311\u2013316 (1967).","journal-title":"Ann. Radiol."},{"key":"BFng0693170_CR14","first-page":"168","volume":"23","author":"F Lindgren","year":"1980","unstructured":"Lindgren, F. & Ringertz, H. Campomelic syndrome without \u201cCampomelia\u201d. Ann. Radiol. 23, 168 (1980).","journal-title":"Ann. Radiol."},{"key":"BFng0693170_CR15","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/BF00271160","volume":"57","author":"FD Bricarelli","year":"1981","unstructured":"Bricarelli, F.D. et al. Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum. Genet. 57, 15\u201322 (1981).","journal-title":"Hum. Genet."},{"key":"BFng0693170_CR16","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1097\/00019605-199207000-00010","volume":"1","author":"U Friedrich","year":"1992","unstructured":"Friedrich, U., Schaefer, E. & Meinecke, P. Campomelic dysplasia without overt campomelia. Clin. Dysmorphol. 1, 172\u2013178 (1992).","journal-title":"Clin. Dysmorphol."},{"key":"BFng0693170_CR17","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1007\/BF02010643","volume":"20","author":"RI MacPherson","year":"1989","unstructured":"MacPherson, R.I., Skinner, S.A. & Donnenfeld, A.E. Acampomelic campomelic dysplasia. Pediatr. Radiol. 20, 90\u201393 (1989).","journal-title":"Pediatr. Radiol."},{"key":"BFng0693170_CR18","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1159\/000133107","volume":"57","author":"PD S\u00f8rensen","year":"1991","unstructured":"S\u00f8rensen, P.D., Lomholt, B. & Frederiksen, B., Tommerup, N. Fine mapping of human 5S rRNA genes to chromosome region 1q42.11\u201342.13. Cytogenet. cell Genet. 57, 26\u20139 (1991).","journal-title":"Cytogenet. cell Genet."},{"key":"BFng0693170_CR19","unstructured":"ISCN: An International System for Human Cytogenetic Nomenclature (eds Harnden, D.G. & Klinger, H.P.). 1\u2013117 (Karger, Basel, 1985)."},{"key":"BFng0693170_CR20","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1136\/jmg.29.5.299","volume":"29","author":"NP Carter","year":"1992","unstructured":"Carter, N.P. et al. Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical analysis. J. med. Genet. 29, 299\u2013307 (1992).","journal-title":"J. med. Genet."},{"key":"BFng0693170_CR21","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1093\/nar\/19.3.689","volume":"19","author":"MH Polymeropoulos","year":"1991","unstructured":"Polymeropoulos, M.H., Rath, D.S., Xiao, H. & Merril, C.R. A simple sequence repeat polymorphism at the human growth hormone locus. Nucl. Acids Res. 19, 689 (1991).","journal-title":"Nucl. Acids Res."},{"key":"BFng0693170_CR22","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1159\/000133177","volume":"58","author":"E Solomon","year":"1991","unstructured":"Solomon, E. & Ledbetter, D.H. Report of the committee on the genetic constitution of chromosome 17. Cytogenet. cell Genet. 58, 686\u2013738 (1991).","journal-title":"Cytogenet. cell Genet."},{"key":"BFng0693170_CR23","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1159\/000133331","volume":"60","author":"PR Fain","year":"1992","unstructured":"Fain, P.R. Third international workshop on human chromosome 17 mapping. Cytogenet. cell Genet. 60, 177\u2013186 (1992).","journal-title":"Cytogenet. cell Genet."},{"key":"BFng0693170_CR24","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/ajmg.1320210204","volume":"21","author":"J Bridge","year":"1985","unstructured":"Bridge, J. et al. Partial deletion of distal 17q. Am. J. med. Genet. 21, 225\u2013229 (1985).","journal-title":"Am. J. med. Genet."},{"key":"BFng0693170_CR25","first-page":"51","volume":"44","author":"A Giannotti","year":"1992","unstructured":"Giannotti, A. et al. Partial deletion of the long arm of chromosome 17. Clinical case. Minerva Pediatr. 44, 51\u201354 (1992).","journal-title":"Minerva Pediatr."},{"key":"BFng0693170_CR26","first-page":"48","volume":"35","author":"S Luke","year":"1992","unstructured":"Luke, S., Bennett, H.S., Pitter, J.H. & Verma, R.S. A new case of monosomy for 17q25\u2013qter due to a maternal translocation [t(3; 17)(p12;q24)]. Ann G\u00e9n\u00e9t. 35, 48\u201350 (1992).","journal-title":"Ann G\u00e9n\u00e9t."},{"key":"BFng0693170_CR27","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1111\/j.1399-0004.1979.tb00852.x","volume":"16","author":"RN Schimke","year":"1979","unstructured":"Schimke, R.N. XY sex-reversed campomelia \u2014 possible an X-linked disorder? Clin. Genet. 16, 62\u201363 (1979).","journal-title":"Clin. Genet."},{"key":"BFng0693170_CR28","first-page":"1262","volume-title":"Inheritance in Man","author":"VA McKusick","year":"1992","unstructured":"McKusick, V.A., Inheritance in Man. 10th edn 1262\u20131263 (Johns Hopkins University Press, Baltimore, 1992)."},{"key":"BFng0693170_CR29","first-page":"707","volume":"49","author":"A Kuwano","year":"1991","unstructured":"Kuwano, A. et al. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. hum. Genet. 49, 707\u2013714 (1991).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0693170_CR30","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1159\/000133716","volume":"58","author":"J Frezal","year":"1991","unstructured":"Frezal, J. & Schinzel, A. Report of the committee on clinical disorders and chromosomal deletion syndromes (Human Gene Mapping 11). Cytogenet. cell Genet. 58, 986\u20131052 (1991).","journal-title":"Cytogenet. cell Genet."},{"key":"BFng0693170_CR31","first-page":"175","volume":"31","author":"E Lenzini","year":"1988","unstructured":"Lenzini, E. et al. Partial duplication of 17 long arm. Ann. Genet. 31, 175\u2013180 (1988).","journal-title":"Ann. Genet."},{"key":"BFng0693170_CR32","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/S0022-3476(86)80377-8","volume":"109","author":"RD Schmickel","year":"1986","unstructured":"Schmickel, R.D. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109, 231\u2013241 (1986).","journal-title":"J. Pediatr."},{"key":"BFng0693170_CR33","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1136\/jmg.28.4.217","volume":"28","author":"AC Chandley","year":"1991","unstructured":"Chandley, A.C. On the parental origin of de novo mutation in man. J. med. Genet. 28, 217\u201323 (1991).","journal-title":"J. med. Genet."},{"key":"BFng0693170_CR34","doi-asserted-by":"publisher","first-page":"S162","DOI":"10.1007\/BF00648429","volume":"3","author":"AM Buchberg","year":"1992","unstructured":"Buchberg, A.M., Buckwalter, M.S. & Camper, S.A. Mouse chromosome 11. Mamm. Genome 3, S162\u2013S181 (1992).","journal-title":"Mamm. Genome"},{"key":"BFng0693170_CR35","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1093\/oxfordjournals.jhered.a106131","volume":"41","author":"WC Morgan","year":"1950","unstructured":"Morgan, W.C. A new tail-short mutation in the mouse. J. Hered. 41, 208\u2013215 (1950).","journal-title":"J. Hered."},{"key":"BFng0693170_CR36","first-page":"78","volume":"155","author":"MS Deol","year":"1961","unstructured":"Deol, M.S. Genetical studies on the skeleton of the mouse. XXVIII. Tail-short. Proc. R. Soc. Lond. 155, 78\u201395 (1961).","journal-title":"Proc. R. Soc. Lond."},{"key":"BFng0693170_CR37","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/ng0492-3","volume":"1","author":"FS Collins","year":"1992","unstructured":"Collins, F.S. Positional cloning: Let's not call it reverse anymore. Nature Genet. 1, 3\u20136 (1992).","journal-title":"Nature Genet."},{"key":"BFng0693170_CR38","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1111\/j.1399-0004.1993.tb04461.x","volume":"43","author":"M Fannemel","year":"1993","unstructured":"Fannemel, M., Riise, R., Lofter\u00f8d, B. & Tommerup, N. High-resolution chromosome analysis in autosomal recessive disorders. Laurence-Moon-Bardet-Biedl syndrome. Clin. Genet. 43, 111\u2013112 (1993).","journal-title":"Clin. Genet."},{"key":"BFng0693170_CR39","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1007\/BF00291539","volume":"63","author":"W Schempp","year":"1983","unstructured":"Schempp, W. & Meer, B. Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum. Genet. 63, 171\u2013174 (1983).","journal-title":"Hum. Genet."},{"key":"BFng0693170_CR40","doi-asserted-by":"publisher","first-page":"6634","DOI":"10.1073\/pnas.87.17.6634","volume":"87","author":"P Lichter","year":"1990","unstructured":"Lichter, P. et al. Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. Proc. natn. Acad. Sci. U.S.A. 87, 6634\u20136638 (1990).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0693170_CR41","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1159\/000133479","volume":"62","author":"N Silahtaroglu","year":"1993","unstructured":"Silahtaroglu, N., T\u00fcrner, Z., Kristensen, T., Sottrup-Jensen, L. & Tommerup, N. Assignment of PAPPA to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes. Cytogenet. cell Genet. 62, 214\u2013216 (1993).","journal-title":"Cytogenet. cell Genet."},{"key":"BFng0693170_CR42","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1002\/cyto.990060203","volume":"6","author":"GJ van den Engh","year":"1985","unstructured":"van den Engh, G.J., Trask, B., Gray, J.W., Langlois, P. & Yu, L.C. Preparation and bivariate abnalysis of suspensions of human chromosomes. Cytometry 6, 92\u2013100 (1985).","journal-title":"Cytometry"},{"key":"BFng0693170_CR43","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/cyto.990090313","volume":"9","author":"G van den Engh","year":"1988","unstructured":"van den Engh, G., Trask, B., Lansdorp, P. & Gray, J. Improved resolution of flow cytometric measurements of Hoechst- and chromomycin A3 stained human chromosomes after addition of citrate and sulfite. Cytometry 9, 266\u2013270 (1988).","journal-title":"Cytometry"},{"key":"BFng0693170_CR44","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1159\/000133727","volume":"58","author":"R Williamson","year":"1991","unstructured":"Williamson, R. et al. Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Human Gene Mapping 11. Cytogenet. cell Genet. 58, 1190\u20131832 (1991).","journal-title":"Cytogenet. cell Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0693-170","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0693-170.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0693-170.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:40:22Z","timestamp":1684442422000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0693-170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":44,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,6]]}},"alternative-id":["BFng0693170"],"URL":"https:\/\/doi.org\/10.1038\/ng0693-170","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}