{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:19:17Z","timestamp":1760782757934},"reference-count":7,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4206,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retaredation. We report a 2\u2010year\u2010old white girl with a denovo 46, XX, inv dup(5)(p14p15.3) chromosome constitution, who presented with motor and language delays, bilateral strabismus, small posteriorly angulated ears, a high\u2010arched palate, mild hypotonia, and an atrial septal defect. A CT scan of the head was normal. In situ hybridization with a cosmid probe specific for sub\u2010band 5p15.3 (Oncor, Inc., Gaithersburg, MD) was used to identify the origin and orientation of the extra material. The milder manifestations in our patient are consistent with the hypothesis that significant phenotypic effects are associated with duplication of material proximal to band 5p14. This study demonstrates the usefulness of in situ probes in identifying the origin and orientation of duplicated genetic material. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470814","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:42:04Z","timestamp":1118508124000},"page":"1198-1201","source":"Crossref","is-referenced-by-count":16,"title":["Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization"],"prefix":"10.1002","volume":"47","author":[{"given":"Julie L.","family":"Zenhger\u2010Hain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel L.","family":"van Dyke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Wiktor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugh","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerald L.","family":"Feldman","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":"10.1159\/000133104"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02771.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07224.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120106"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03323.x"},{"key":"e_1_2_1_7_1","first-page":"5767","article-title":"S\u00e9gr\u00e9gation familiale d'une translocation 5\u201313 d\u00e9terminant une monosomie et une trisomie partielles du bras court de chromosome 5: Maladie du cridu chat et sa r\u00e9ciproque","volume":"258","author":"Lejeune J","year":"1964","journal-title":"CR Acad Sci[III]"},{"key":"e_1_2_1_8_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.1320470814","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470814","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T01:52:09Z","timestamp":1698198729000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,12]]},"references-count":7,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1993,12]]}},"alternative-id":["10.1002\/ajmg.1320470814"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470814","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,12]]}}}