{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T15:08:53Z","timestamp":1777648133655,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,3,1]],"date-time":"2007-03-01T00:00:00Z","timestamp":1172707200000},"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":[[2007,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13\u2010year\u2010old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31633","type":"journal-article","created":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T00:10:24Z","timestamp":1172794224000},"page":"727-733","source":"Crossref","is-referenced-by-count":17,"title":["Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation"],"prefix":"10.1002","volume":"143A","author":[{"given":"P.","family":"Mabboux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Brisset","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Aboura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Pineau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Koubi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Joannidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Labrune","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Tachdjian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000153910"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.957"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.0.CO;2-N"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<355::AID-AJMG4>3.0.CO;2-P"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201311"},{"key":"e_1_2_6_7_1","first-page":"359","volume-title":"Sex differentiation and chromosomal abnormalities","author":"Gardner RJM","year":"1978"},{"key":"e_1_2_6_8_1","first-page":"339","article-title":"Ectopic NORs on human chromosomes 4qter and 8q11: Rare chromosomal variants detected in two families","volume":"36","author":"Guttenbach M","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.5.377"},{"key":"e_1_2_6_10_1","first-page":"165","article-title":"De novo partial trisomy of chromosome 18(pter\u2009\u2192\u2009q11:). 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