{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:00:54Z","timestamp":1790974854507,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T00:00:00Z","timestamp":1166054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:p>\n                    The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the\n                    <jats:italic>SOX9<\/jats:italic>\n                    gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the\n                    <jats:italic>SOX9<\/jats:italic>\n                    coding region. The previously published CD translocation breakpoints upstream of\n                    <jats:italic>SOX9<\/jats:italic>\n                    fall into two clusters: a proximal cluster with breakpoints between 50\u2013300 kb and a distal cluster with breakpoints between 899\u2013932 kb. Here, we present clinical, cytogenetic and molecular data from two novel CD translocation cases. Case 1 with karyotype 46,XY,t(1;17)(q42.1;q24.3) has characteristic symptoms of CD, including mild tibial bowing, cryptorchidism and hypospadias. By standard fluorescence\n                    <jats:italic>in situ<\/jats:italic>\n                    hybridization (FISH) and by high\u2010resolution fiber FISH, the 17q breakpoint was mapped 375 kb from\n                    <jats:italic>SOX9<\/jats:italic>\n                    , defining the centromeric border of the proximal breakpoint cluster region. Case 2 with karyotype 46,X,t(Y;17)(q11.2;q24.3) has the acampomelic form of CD and complete XY sex reversal. By FISH and somatic cell hybrid analysis, the 17q breakpoint was mapped 789 kb from\n                    <jats:italic>SOX9<\/jats:italic>\n                    , defining the telomeric border of the distal breakpoint cluster region. We discuss the structure of the 1 Mb\n                    <jats:italic>cis<\/jats:italic>\n                    \u2010control region upstream of\n                    <jats:italic>SOX9<\/jats:italic>\n                    and the correlation between the position of the 14 mapped translocation breakpoints with respect to disease severity and XY sex reversal.\n                  <\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00736.x","type":"journal-article","created":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T20:10:33Z","timestamp":1166127033000},"page":"67-75","source":"Crossref","is-referenced-by-count":97,"title":["Two novel translocation breakpoints upstream of\n                    <i>SOX9<\/i>\n                    define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia"],"prefix":"10.1111","volume":"71","author":[{"given":"M","family":"Leipoldt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Erdel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GA","family":"Bien\u2010Willner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Smyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Theurl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SA","family":"Yatsenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JR","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AH","family":"Lane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AL","family":"Shanske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,14]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150103"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.415"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.597"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1977.tb01212.x"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.4.251"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0693-170"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90041-8"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/372525a0"},{"key":"e_1_2_6_10_2","first-page":"1028","article-title":"Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal","volume":"57","author":"Kwok C","year":"1995","journal-title":"Am J Hum 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