{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T13:38:58Z","timestamp":1769521138471,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2007,4,12]],"date-time":"2007-04-12T00:00:00Z","timestamp":1176336000000},"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":[[2007,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a case of a de novo trisomy 20p in a 5\u2010year\u2010old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype and FISH techniques allowed the characterization of the chromosome rearrangement showing a duplication spanning almost the whole short arm of chromosome 20. Therefore the karyotype was interpreted as 46,XY,der(20)(pter\u2009\u2192\u2009q13.3::p11.2\u2009\u2192\u2009pter). Molecular studies identified the duplication of paternal origin. This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31704","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T01:49:52Z","timestamp":1176428992000},"page":"1100-1103","source":"Crossref","is-referenced-by-count":19,"title":["De novo trisomy 20p of paternal origin"],"prefix":"10.1002","volume":"143A","author":[{"given":"Myriam","family":"Chaabouni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Turleau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotfi","family":"Karboul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia Ben","family":"Jemaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faouzi","family":"Maazoul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Atti\u00e9\u2010Bitach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Romana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Habiba","family":"Chaabouni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,4,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00280496"},{"key":"e_1_2_6_3_1","first-page":"77","article-title":"Familial trisomy 20p. Five cases and two carriers in three generations","volume":"20","author":"Centerwall W","year":"1983","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_4_1","first-page":"94","article-title":"Trisomy 20p due to a paternal reciprocal translocation","volume":"26","author":"Funderburk SJ","year":"1983","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03398.x"},{"key":"e_1_2_6_6_1","first-page":"167","article-title":"Trisomie 20p d\u00e9riv\u00e9e d'une inversion p\u00e9ricentrique maternelle et brachym\u00e9sophalangie de l'index","volume":"28","author":"Lucas J","year":"1985","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040107"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1389"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<316::AID-AJMG4>3.0.CO;2-Z"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.454"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278884"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20373"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20430"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20060"},{"key":"e_1_2_6_15_1","first-page":"247","article-title":"Trisomy 20p from maternal translocation and anencepahly case report and genetic review","volume":"32","author":"Zumel RM","year":"1989","journal-title":"Ann G\u00e9n\u00e9t"}],"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.31704","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31704","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:31:42Z","timestamp":1697603502000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31704"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,12]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2007,5,15]]}},"alternative-id":["10.1002\/ajmg.a.31704"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31704","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,12]]}}}