{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:07:20Z","timestamp":1770743240046,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,5,26]],"date-time":"2002-05-26T00:00:00Z","timestamp":1022371200000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2002,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The Turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox\u2010containing gene entitled short\u2010stature homeobox\u2010containing gene (<jats:italic>SHOX<\/jats:italic>), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X\u2010inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri\u2013Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature. However, in this communication we report a normal statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication\u2010deletion X\u2010chromosome. The karyotype of the proband was 46,X,rec(X)dup(Xp)inv(X)(p11\u00b722q21\u00b72)mat and fluorescent<jats:italic>in situ<\/jats:italic>hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for<jats:italic>SHOX<\/jats:italic>. This communication suggests the relationship between levels of SHOX expression and human stature to be more complex than envisaged previously. The presence of normal stature in our patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.<\/jats:p>","DOI":"10.1046\/j.1365-2265.2002.01504.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T10:53:58Z","timestamp":1047380038000},"page":"671-675","source":"Crossref","is-referenced-by-count":21,"title":["Trisomy of the short stature homeobox\u2010containing gene (<i>SHOX<\/i>), resulting from a duplication\u2010deletion of the X chromosome"],"prefix":"10.1111","volume":"56","author":[{"given":"K. A.","family":"Adamson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Cross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Batch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. A.","family":"Rappold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. A.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. G.","family":"Ball","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,5,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.24.10001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-67"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.695"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1999.tb14404.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1341"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500202"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6289"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053061"},{"key":"e_1_2_7_10_1","first-page":"455","article-title":"Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene (s) in the pseudoautosomal region","volume":"29","author":"Ogata T.","year":"1992","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.8.2927"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.8.539"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570609.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050497"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_7_16_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780199632909.001.0001","volume-title":"Human Cytogenetics \u2013 A Practical Approach","author":"Rooney D.E.","year":"1992"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200402"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2265.2002.01504.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2265.2002.01504.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1046\/j.1365-2265.2002.01504.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,6]],"date-time":"2024-01-06T11:12:28Z","timestamp":1704539548000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1046\/j.1365-2265.2002.01504.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,5]]}},"alternative-id":["10.1046\/j.1365-2265.2002.01504.x"],"URL":"https:\/\/doi.org\/10.1046\/j.1365-2265.2002.01504.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5]]}}}