{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T08:52:32Z","timestamp":1775638352414,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2006,5,1]],"date-time":"2006-05-01T00:00:00Z","timestamp":1146441600000},"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":[[2006,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cases of tetrasomy 12p and trisomy 12p are known to be associated with specific phenotypic abnormalities well described in the literature. Here, we report on the unusual case of a partial tetrasomy 12p found in an affected patient and in a mosaic constellation in the patient's mother, who showed no phenotypic abnormality. The index patient was a 16\u2010year\u2010old boy with clinical features similar to the \u201ctrisomy 12p syndrome\u201d including mental retardation, macrocephaly, a short nose with anteverted nostrils, and a broad protruding lower lip. G\u2010banding analysis and fluorescence in situ hybridization (FISH) experiments using locus specific YAC DNA probes revealed a derivative chromosome 12 with a partial triplication of the short arm with an inverted copy, flanked by two direct copies. Chromosome analyses in parental lymphocytes showed a chromosomal mosaicism in the phenotypically normal mother, with 12% cells exhibiting the same partial tetrasomy 12p as detected in her son. The allelic pattern of short tandem repeats (STR) in the mother's blood DNA showed that a chimerism can be excluded with high probability. To our knowledge, this is the first report of intrachromosomal triplication on chromosome 12, as well as partial tetrasomy 12p mosaicism. Moreover, as a consequence of the chromosomal aberration in the son it can be concluded that a gonadal mosaicism is present in the mother. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31237","type":"journal-article","created":{"date-parts":[[2006,5,1]],"date-time":"2006-05-01T19:52:07Z","timestamp":1146513127000},"page":"1219-1222","source":"Crossref","is-referenced-by-count":14,"title":["Intrachromosomal triplication 12p11.22\u2013p12.3 and gonadal mosaicism of partial tetrasomy 12p<sup>,<\/sup>**"],"prefix":"10.1002","volume":"140A","author":[{"given":"Heike","family":"Eckel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"Wimmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Volleth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sibylle","family":"Jakubiczka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Muschke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Wieacker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<250::AID-AJMG43>3.0.CO;2-K"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200673"},{"key":"e_1_2_7_4_1","first-page":"52","article-title":"Trisomy (12p) with telomeric and pseudoisodicentric chromosome formation in a fetus","volume":"41","author":"Plaja A","year":"1998","journal-title":"Ann Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO;2-L"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580208.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442992"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10025"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80165-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10164"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04181.x"}],"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.31237","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T06:50:06Z","timestamp":1697093406000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5]]},"references-count":11,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1002\/ajmg.a.31237"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31237","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5]]}}}