{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T06:47:47Z","timestamp":1774680467532,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified an isochromosome of 18p [47, XY, + i(18p)] conclusively by <jats:italic>in situ<\/jats:italic> hybridization of an 18p\u2010specific probe (B74; D18S3) to metaphase chromosomes of an affected patient. Clinical findings included mental retardation, microcephaly, and an atrial septal defect. Although there is similarity to patients previously described with tetrasomy 18p, it is impossible to rule out a low frequency of mis\u2010diagnoses in karyotypes determined solely by standard cytogenetic analyses. We expect the ability to conclusively identify an i(18p) to lead to the delineation of tetrasomy 18p as a distinct clinical syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320410209","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:45Z","timestamp":1118547945000},"page":"180-183","source":"Crossref","is-referenced-by-count":8,"title":["Diagnosis of tetrasomy 18p using <i>in situ<\/i> hybridization of a DNA probe to metaphase chromosomes"],"prefix":"10.1002","volume":"41","author":[{"given":"Vicki Murtif","family":"Park","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen M.","family":"Gustashaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M.","family":"Bilenker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy L.","family":"Golden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"493","article-title":"The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization","volume":"47","author":"Callen DF","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"978","article-title":"Break\u2010point localization of the marker chromosome associated with the cat eye syndrome","volume":"38","author":"Duncan AMV","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000129771"},{"key":"e_1_2_1_5_1","first-page":"111","article-title":"18p tetrasomy: further evidence for a distinctive clinical syndrome","volume":"28","author":"Fryns JP","year":"1985","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_5_2","volume-title":"An international System for Human Cytogenetic Nomenclature","author":"ISCN","year":"1985"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01918.x"},{"key":"e_1_2_1_7_1","first-page":"601","volume-title":"The Cytogenetics of Mammalian Autosomal Rearrangements","author":"Mattei MG","year":"1988"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293038"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3961499"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200220"},{"key":"e_1_2_1_11_1","first-page":"576","article-title":"Localization of the B\u2010globin gene by chromosomal in situ hybridization","volume":"36","author":"Morton CC","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","first-page":"59","article-title":"Small metacentric nonsatellited extra chromosome","volume":"44","author":"Nielson KB","year":"1978","journal-title":"Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"187","article-title":"Tetrasomy 18p: a distinctive syndrome","volume":"27","author":"Rivera H","year":"1984","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360204"},{"key":"e_1_2_1_15_1","first-page":"635","volume-title":"The Cytogenetics of Mammalian Autosomal Rearrangements","author":"Van Dyke DL","year":"1988"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410209","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:12:50Z","timestamp":1698041570000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,11]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,11]]}},"alternative-id":["10.1002\/ajmg.1320410209"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410209","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,11]]}}}