{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:37:53Z","timestamp":1740141473932,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mesomelic and rhizo\u2010mesomelic dysplasias are a group of disorders characterized by abnormal shortening of the limbs. One of the most common causes of mesomelic shortening is the loss of the transcription factor <jats:italic>SHOX<\/jats:italic>. In this clinical report, we present a patient who in addition to mesomelic shortening has severe rhizomelic shortening and developmental delay. Karyotyping revealed a recombinant X chromosome in which the region distal to Xp22.33 (where <jats:italic>SHOX<\/jats:italic> is found) was replaced with material from Xq28. Included in the region distal to Xq28 is the gene <jats:italic>MECP2<\/jats:italic> and this patient presents with features of MECP2 duplication syndrome. We find that this patient has skeletal features not typical with the loss of <jats:italic>SHOX<\/jats:italic> that are likely explained by the rearrangement of the X chromosome. Further delineation of this rearrangement may allow for the identification of additional genetic mechanisms critical for the development of the limbs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38570","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T09:10:03Z","timestamp":1514106603000},"page":"450-454","source":"Crossref","is-referenced-by-count":3,"title":["Severe rhizomelic shortening in a child with a complex duplication\/deletion rearrangement of chromosome X"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-3846","authenticated-orcid":false,"given":"Ashish R.","family":"Deshwar","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children and University of Toronto Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Dupuis","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children and University of Toronto Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[{"name":"Institute for Medical Diagnostics GmbH Center for Human Genetics Ingelheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Stavropoulos","sequence":"additional","affiliation":[{"name":"Genome Diagnostics The Hospital for Sick Children and University of Toronto Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3542-8106","authenticated-orcid":false,"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children and University of Toronto Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/86941"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/340390"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20231"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.195"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.002"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0395"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1237691"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI78167"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/444549"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.05.004"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10422"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38570","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T09:18:33Z","timestamp":1693991913000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38570"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,22]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1002\/ajmg.a.38570"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38570","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,12,22]]}}}