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His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:00:38Z","timestamp":1118512838000},"page":"389-392","source":"Crossref","is-referenced-by-count":12,"title":["46,XY\/47,XYY\/48,XYYY karyotype in a 3\u2010year\u2010old boy ascertained because of radioulnar synostosis"],"prefix":"10.1002","volume":"56","author":[{"given":"Con","family":"James","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Robson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julianne","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arabella","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340215"},{"key":"e_1_2_1_3_1","first-page":"76","volume-title":"Human Genetic Disease Analysis: A Practical Approach","author":"Buckle VJ","year":"1993"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04447.x"},{"key":"e_1_2_1_5_1","first-page":"63","volume-title":"Population Cytogenetics Studies in Humans","author":"Hook EB","year":"1977"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)42772-8"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.1.80"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790090"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130811"},{"key":"e_1_2_1_10_1","first-page":"237","article-title":"Y aneuploidy: a further case of a male patient with a 48, XYYY karyotype and literature review","volume":"35","author":"Mazauric\u2010Stuker M","year":"1992","journal-title":"Ann Genet"},{"key":"e_1_2_1_11_1","volume-title":"Prospective studies on children with sex chromosome aneuploidy","author":"Ratcliffe SG","year":"1986"},{"issue":"3","key":"e_1_2_1_11_2","first-page":"73","volume":"22","author":"National Foundation\u2013March of Dimes","journal-title":"BD: OAS"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/S0022-5347(17)42772-8","article-title":"A male subject with 3 Y chromosomes (48, XYYY): a case report","volume":"139","author":"Natsuki H","year":"1988","journal-title":"J Urol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.356"},{"key":"e_1_2_1_14_1","first-page":"601","article-title":"Les Hommes 48, XYYY","volume":"6","author":"Sele B","year":"1975","journal-title":"Pediatric"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(65)91315-2"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1963.tb18003.x"},{"key":"e_1_2_1_17_1","first-page":"39","volume-title":"Human Cytogenetics; A Practical Approach","author":"Watt J","year":"1986"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(68)92770-0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320560408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320560408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T20:40:44Z","timestamp":1698352844000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320560408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5,8]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,5,8]]}},"alternative-id":["10.1002\/ajmg.1320560408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320560408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5,8]]}}}