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The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35212","type":"journal-article","created":{"date-parts":[[2012,7,19]],"date-time":"2012-07-19T10:00:18Z","timestamp":1342692018000},"page":"2233-2238","source":"Crossref","is-referenced-by-count":0,"title":["Pseudoaminopterin syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Lilia","family":"Kraoua","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Perrin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelmajjid","family":"Benmansour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20503"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)30422-4"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199410000-00013"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199802)57:2<51::AID-TERA2>3.0.CO;2-9"},{"key":"e_1_2_4_6_1","first-page":"703","article-title":"[Aminopterin\u2010induced fetopathy with congenital stenosis of the medullary space of the long tubular bones]","volume":"12","author":"Brandner M","year":"1969","journal-title":"Ann Radiol (Paris)"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780400527"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(03)00120-0"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370411"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.943"},{"key":"e_1_2_4_11_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1542\/peds.68.2.235","article-title":"New syndrome in three affected siblings","volume":"68","author":"Crane JP","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199907)60:1<10::AID-TERA5>3.0.CO;2-H"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(62)90132-1"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03319.x"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<320::AID-AJMG5>3.0.CO;2-Z"},{"key":"e_1_2_4_16_1","first-page":"33","article-title":"Demonstrations cliniques, embryopathie de l'aminopterin, kwashiorkor, enfant maltraite, listeriose congenitale et saturnisme, maladie de weil","volume":"99","author":"Gautier E","year":"1969","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_4_17_1","first-page":"1189","article-title":"Picture of the month. 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