{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:56Z","timestamp":1760906876991},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4283,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a stillborn male infant with a mosaic ring 13 karyotype (45,XY,\u221213\/46,XY,\u221213,+r(13)) with apparennt aprosencephaly and clinical findings similar to those reported previously in the XK\u2010aprosencephaly syndrome. Findings of patients with r(13) are often similar to those seen in individuals with del(13q). This case was unusual because of the presence of aprosencephaly, although brain malformations such as arhinencephaly and cerebellar hypoplasia are present in at least one\u2010half of reported patients with 13q\u2010. The overlap between these syndromes suggests a possible chromosomal model of the XK\u2010aprosencephaly syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470418","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:34:21Z","timestamp":1118493261000},"page":"531-533","source":"Crossref","is-referenced-by-count":19,"title":["Mosaic r(13) in an infant with aprosencephaly"],"prefix":"10.1002","volume":"47","author":[{"given":"Claire L.","family":"Goldsmith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George F.","family":"Tawagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blair F.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marsha D.","family":"Speevak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alasdair G. W.","family":"Hunter","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.1320030312"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060090096024"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1111\/j.1469-8749.1977.tb07973.x","article-title":"Atelencephalic microcephaly","volume":"19","author":"Garcia CA","year":"1977","journal-title":"Dev Med Child Neurol"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080909"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb08000.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308719"},{"key":"e_1_2_1_9_1","first-page":"3","article-title":"Genetic syndromes of multiple congenital malformations","volume":"39","author":"Lazjuk GI","year":"1977","journal-title":"Arkh Patol (Moscow)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030310"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070216"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110316"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288402301110"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420340103"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420360302"},{"key":"e_1_2_1_16_1","first-page":"146","article-title":"Purkinje cell inclusions and \u201catelencephaly\u201d in 13q\u2010 chromosomal syndrome","volume":"111","author":"Towfighi J","year":"1987","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290308"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470418","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T10:29:57Z","timestamp":1706264997000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9,15]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,9,15]]}},"alternative-id":["10.1002\/ajmg.1320470418"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470418","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"type":"print","value":"0148-7299"},{"type":"electronic","value":"1096-8628"}],"subject":[],"published":{"date-parts":[[1993,9,15]]}}}