{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T06:23:26Z","timestamp":1772605406399,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,12,12]],"date-time":"2007-12-12T00:00:00Z","timestamp":1197417600000},"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":[[2008,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duplications of the short arm of the X chromosome in male patients are rare. We report on the clinical features of mentally retarded patients in two families with different interstitial duplications of Xp and their characterization by tiling path array comparative genomic hybridization (array CGH). In Family A, we detected a duplication of 9.3 Mb in Xp11p21 in a male with severe mental retardation [karyotype 46,XY,dup(X)(p11.3p21.1)] and his healthy mother. The clinical features of this patient\u2014severe mental retardation, obesity, macrocephaly\u2014are in accordance with those of a previously reported patient with a similar duplication. In Family B, a duplication of 8.5 Mb was diagnosed in Xp22 in three male patients with mental retardation [karyotype 46,XY,dup(X)(p22.11p22.2)] and two healthy females. Characterization of the duplications by array CGH enabled the identification of the genes within these intervals. These comprise known mental retardation genes such as <jats:italic>MAOA<\/jats:italic>, <jats:italic>NDP<\/jats:italic>, <jats:italic>TM4SF2<\/jats:italic>, <jats:italic>NDP<\/jats:italic>, <jats:italic>RSK2<\/jats:italic>, and <jats:italic>CDKL5<\/jats:italic>. Duplication of <jats:italic>MAOA<\/jats:italic> will be discussed as a possible cause of obesity. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32070","type":"journal-article","created":{"date-parts":[[2007,12,12]],"date-time":"2007-12-12T22:47:18Z","timestamp":1197499638000},"page":"197-203","source":"Crossref","is-referenced-by-count":30,"title":["Characterization of interstitial Xp duplications in two families by tiling path array CGH"],"prefix":"10.1002","volume":"146A","author":[{"given":"Andreas","family":"Tzschach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fikret","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adelheid","family":"Hoeller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans\u2010Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Castellan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhard","family":"Ullmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00217352"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-497"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218838"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8211186"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-6-85"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430171"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095921"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0791-6"},{"key":"e_1_2_8_10_1","first-page":"32","article-title":"A duplicated PLP gene causing Pelizaeus\u2010Merzbacher disease detected by comparative multiplex PCR","volume":"59","author":"Inoue K","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/375538"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036178"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<44::AID-AJMG8>3.0.CO;2-Z"},{"key":"e_1_2_8_14_1","first-page":"189","article-title":"Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: A familial case report and review of the literature","volume":"41","author":"Melaragno MI","year":"1998","journal-title":"Ann Genet"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01888928"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.3.222"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580205.x"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1517\/14656566.5.3.633"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202860"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.767"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/384567a0"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/444549"}],"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.32070","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32070","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:38:26Z","timestamp":1697614706000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,12]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,1,15]]}},"alternative-id":["10.1002\/ajmg.a.32070"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32070","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,12]]}}}