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This 7 Mb duplication encompasses 23 known genes, including the X\u2010linked mental retardation (XLMR) genes <jats:italic>ATRX<\/jats:italic> and <jats:italic>SLC16A2<\/jats:italic>. The phenotype of this patient is similar to that described in more than 10 previously reported patients with overlapping Xq duplications. Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of <jats:italic>ATRX<\/jats:italic> and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and\/or a small penis. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32742","type":"journal-article","created":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T19:08:26Z","timestamp":1237230506000},"page":"760-766","source":"Crossref","is-referenced-by-count":17,"title":["Xq13.2q21.1 duplication encompassing the <i>ATRX<\/i> gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax"],"prefix":"10.1002","volume":"149A","author":[{"given":"Dorien","family":"Lugtenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arjan P.M.","family":"de Brouwer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid R.","family":"Oudakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben C.J.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernie M.H.F.","family":"Bongers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1385\/NMM:8:4:485"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02350.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.3.253"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.25.14440"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201595"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30613"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284707"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0343-1"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20564"},{"key":"e_1_2_7_12_1","first-page":"435","article-title":"Pelizaeus\u2010Merzbacher disease: An X\u2010linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein","volume":"45","author":"Gencic S","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-15"},{"key":"e_1_2_7_14_1","first-page":"685","article-title":"Inherited tandem duplication of the X chromosome: dup(X)(q13.2\u2010q21.2) in a family","volume":"27","author":"Hou JW","year":"2004","journal-title":"Chang Gung Med J"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229202. 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