{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:04:34Z","timestamp":1764493474067},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,2,25]],"date-time":"2003-02-25T00:00:00Z","timestamp":1046131200000},"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":[[2003,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe here a patient with intrachromosomal triplication 15q11\u2010q13, a rare chromosomal event associated with severe mental retardation and intractable epilepsy. Cytogenetic studies including FISH on interphasic nuclei showed that the middle segment of the triplication was inverted in orientation. Molecular analyses demonstrated that the rearrangement was of maternal origin. Based on these cytogenetic and molecular data and those of the nine cases reported in the literature, we discuss the mechanistic origins of these triplications. We present several arguments for the mechanism involving two U\u2010type exchanges occurring simultaneously at the pachytene stage of meiosis. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10164","type":"journal-article","created":{"date-parts":[[2003,3,31]],"date-time":"2003-03-31T12:03:18Z","timestamp":1049112198000},"page":"229-234","source":"Crossref","is-referenced-by-count":25,"title":["Mechanism of intrachromosomal triplications 15q11\u2010q13: A new clinical report"],"prefix":"10.1002","volume":"118A","author":[{"given":"Fran\u00e7ois","family":"Vialard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Mignon\u2010Ravix","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Parain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Depetris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010France","family":"Portno\u00ef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Moirot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Genevi\u00e8ve","family":"Mattei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,2,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302510"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.964"},{"key":"e_1_2_7_4_1","first-page":"206","article-title":"Paternal triplication of 15q11\u2010q13 in a hypotonic, developmentally delayed child without Prader\u2010Willi or Angelman syndrome","volume":"62","author":"Cassidy SB","year":"1996","journal-title":"Am J Med Genet"},{"key":"e_1_2_7_5_1","first-page":"753","article-title":"Cytogenetic and molecular characterization of inverted duplication chromosomes 15 from 11 patients","volume":"55","author":"Cheng S\u2010D","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.6.1025"},{"key":"e_1_2_7_7_1","first-page":"928","article-title":"Autism or atypical autism in maternally but not paternally derived proximal 15q duplication","volume":"60","author":"Cook EH","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209395"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220089"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.5.425"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1159\/000472176","article-title":"Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect","volume":"4","author":"Mignon C","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2934"},{"key":"e_1_2_7_13_1","doi-asserted-by":"crossref","unstructured":"RobertsSE DennisNR BrowneCE WillattL WoodsCG CrossI JacobsPA ThomasNS.2002.Characterisation of interstitial duplications and triplications of chromosome 15q11\u2010q13. 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