{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:40:18Z","timestamp":1760730018718},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,12]],"date-time":"2009-02-12T00:00:00Z","timestamp":1234396800000},"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":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 5\u2010year\u2010old girl with Pallister\u2013Killian syndrome (OMIM #601803) due to mosaicism of two supernumerary isochromosomes (hexasomy 12p). Hexasomy 12p was found in 20% of the cells by chromosome analysis of cultured skin fibroblasts and confirmed by FISH\u2010 and arrayCGH analysis. The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic dilated cardiomyopathy, polydactyly, and mild developmental delay. This is the second live case of mosaicism for hexasomy 12p to be reported. A gene\u2010dosage hypothesis has previously suggested that cases with hexasomy 12p would have a worse phenotype than cases with tetrasomy 12p. The relatively mild symptoms found in the current girl with hexasomy 12p may to contradict this hypothesis. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32681","type":"journal-article","created":{"date-parts":[[2009,2,13]],"date-time":"2009-02-13T00:03:09Z","timestamp":1234483389000},"page":"510-514","source":"Crossref","is-referenced-by-count":16,"title":["Pallister\u2013Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p"],"prefix":"10.1002","volume":"149A","author":[{"given":"Ida","family":"Vogel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troels","family":"Lyngbye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f8ren","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens Michael","family":"Hertz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.806"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.0.CO;2-S"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7210712"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/073428290001800306"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10155"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10877"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20306"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00250.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.68"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U"},{"key":"e_1_2_7_12_1","first-page":"45","article-title":"Collaborative study of mosaic tetrasomy 12p or Pallister\u2010Killian syndrome (nineteen fetuses or children)","volume":"40","author":"Mathieu M","year":"1997","journal-title":"Ann Genet"},{"key":"e_1_2_7_13_1","first-page":"103","article-title":"The pallister mosaic syndrome","volume":"13","author":"Pallister PD","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530211"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02429.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470808"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310416"},{"key":"e_1_2_7_18_1","first-page":"62","article-title":"Lethal presentation of mosaic tetrasomy 12p (Pallister\u2010Killian) syndrome","volume":"32","author":"Young ID","year":"1989","journal-title":"Ann Genet"}],"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.32681","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32681","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:01:27Z","timestamp":1697601687000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32681"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,12]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/ajmg.a.32681"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32681","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,12]]}}}