{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969628},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4450,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin\u2010DAPI and C\u2010band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p). \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460116","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:56:24Z","timestamp":1118537784000},"page":"95-97","source":"Crossref","is-referenced-by-count":16,"title":["46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization"],"prefix":"10.1002","volume":"46","author":[{"given":"Nancy B.","family":"Spinner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaclyn A.","family":"Biegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Sovinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Rehberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette H.","family":"Parmiter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","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":"crossref","first-page":"123","DOI":"10.1007\/BF00277633","article-title":"Partial duplication of 17p\u2010, a new chromosomal syndrome","volume":"49","author":"Bartsch\u2010Sandhoff M","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"67","volume-title":"Human Cytogenetics: A practical Approach","author":"Benn PA","year":"1986"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110306"},{"key":"e_1_2_1_5_1","volume-title":"Published in collaboration with Cytogenet Cell Genet","author":"ISCN","year":"1985"},{"key":"e_1_2_1_6_1","first-page":"123","article-title":"Trisomy 17p due to a t(5;17) (p15;p11) pat translocation","volume":"25","author":"Jinno Y","year":"1982","journal-title":"Ann Genet"},{"key":"e_1_2_1_7_1","first-page":"101","volume-title":"Human Cytogenetics: A Practical Approach","author":"Jonasson JA","year":"1986"},{"key":"e_1_2_1_8_1","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller\u2010Diecker syndrome by in situ hybridization","volume":"49","author":"Kuwano A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","first-page":"213","article-title":"Trisomy of the short arm of chromosome 17","volume":"23","author":"Latta E","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_10_1","first-page":"172","article-title":"Complete trisomy 17p a relatively new syndrome","volume":"31","author":"Martsolf JT","year":"1988","journal-title":"Ann Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03492.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(78)90177-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460116","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:53Z","timestamp":1698278453000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1002\/ajmg.1320460116"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460116","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}