{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T23:48:15Z","timestamp":1789861695935,"version":"4.0.1"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,2,6]],"date-time":"2013-02-06T00:00:00Z","timestamp":1360108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Recessive X\u2010linked dystonia\u2010parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We confirmed the presence of an X\u2010linked dystonia\u2010parkinsonism\u2013specific change in our patient by sequencing. In addition, we employed quantitative real\u2010time PCR and array comparative genomic hybridization to determine the patient's X\u2010chromosome copy number.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient's sequence electropherogram suggested a higher amount of the mutated allele compared with the wild\u2010type allele. Subsequently, extensive gene dosage analyses revealed a copy number of the X chromosomes between 1 and 2, indicating loss of 1 X chromosome in a subset of cells. Phenotypic reevaluation of the patient showed several clinical features of Turner syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our female X\u2010linked dystonia\u2010parkinsonism patient suffered from an undiagnosed X\u2010chromosome monosomy in a subset of cells (45,X\/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X\u2010linked dystonia\u2010parkinsonism phenotype in women. \u00a9 2013 <jats:italic>Movement<\/jats:italic> Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25369","type":"journal-article","created":{"date-parts":[[2013,2,6]],"date-time":"2013-02-06T15:12:15Z","timestamp":1360163535000},"page":"675-678","source":"Crossref","is-referenced-by-count":21,"title":["X\u2010linked Dystonia\u2010Parkinsonism manifesting in a female patient due to atypical turner syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"Ana","family":"Westenberger","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond L.","family":"Rosales","sequence":"additional","affiliation":[{"name":"University of Santo Tomas Metro Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sascha","family":"Heinitz","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Freimann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian V.","family":"Lee","sequence":"additional","affiliation":[{"name":"Philippine Children's Medical Center Metro Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland D.","family":"Jamora","sequence":"additional","affiliation":[{"name":"University of the Philippines\u2014Philippine General Hospital Metro Manila Philippines"},{"name":"St Luke's Medical Center Metro Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arlene R.","family":"Ng","sequence":"additional","affiliation":[{"name":"St Luke's Medical Center Metro Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aloysius","family":"Domingo","sequence":"additional","affiliation":[{"name":"University of the Philippines\u2014Philippine General Hospital Metro Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Walter","sequence":"additional","affiliation":[{"name":"Departments of Neurology University of Rostock Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"G\u00f6lnitz","sequence":"additional","affiliation":[{"name":"Centogene GmbH, Institute of Molecular Diagnostics Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"Centogene GmbH, Institute of Molecular Diagnostics Rostock Germany"},{"name":"Albrecht\u2010Kossel\u2010Institute for Neuroregeneration, Medical Faculty Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Nagel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Christian\u2010Albrechts\u2010University Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiner","family":"Siebert","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Christian\u2010Albrechts\u2010University Kiel Germany"},{"name":"University Hospital Schleswig\u2010Holstein Campus Kiel, Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Dressler","sequence":"additional","affiliation":[{"name":"Departments of Neurology University of Rostock Rostock Germany"},{"name":"Movement Disorders Section at the Department of Neurology Hannover Medical School Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.526728"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/512129"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1831949100"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.8.1555"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.12.1956"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.526729"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra030360"},{"key":"e_1_2_8_9_1","first-page":"661","article-title":"Prenatal diagnosis of 45,X\/46,XX mosaicism and 45,X: implications for postnatal outcome","volume":"57","author":"Koeberl DD","year":"1995","journal-title":"Am J Hum Genet."}],"container-title":["Movement 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