{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:04:08Z","timestamp":1698296648099},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4236,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present prenatal diagnosis and follow\u2010up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2\/13) of familial cases had abnormalities and 40% (2\/5) of de novo cases had abnormalities. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470610","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:41:37Z","timestamp":1118508097000},"page":"848-851","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal detection of de novo paracentric inversion 46, XX inv (14) (q22q32.1) in a normal child: Report and review of the literature"],"prefix":"10.1002","volume":"47","author":[{"given":"Holly An","family":"Hales","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Matthew","family":"Peterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara Kaiser\u2010McCaw","family":"Hecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick","family":"Hecht","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":"10.1007\/BF00278811"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040705"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1399-0004.1985.tb01224.x","article-title":"Paracentric inversions in man","volume":"27","author":"Callen DF","year":"1985","journal-title":"Clin Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/297428a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330105"},{"key":"e_1_2_1_7_1","first-page":"69","volume-title":"Proceedings of the Third International Congress of Human Genetics","author":"Ferguson\u2010Smith M","year":"1966"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291590"},{"key":"e_1_2_1_9_1","first-page":"129","article-title":"Paracentric inversions in man. A French collaborative study","volume":"29","author":"Groupe de cytog\u00e9n\u00e9ticiens Fran\u00e7ais","year":"1986","journal-title":"Ann Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00786.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282296"},{"key":"e_1_2_1_12_1","first-page":"105","article-title":"De novo paracentric inversions in a microcephalic boy: 46, XY inv (14) (q13q24)","volume":"23","author":"Jaeken J","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207058"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441748"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.6.407"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133475"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291594"},{"key":"e_1_2_1_18_1","first-page":"225","article-title":"Paracenteric inversion 14","volume":"33","author":"Miller K","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272986"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970010113"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00276328"},{"key":"e_1_2_1_22_1","volume-title":"Cytogenetics: The Chromosome in Division, Inheritance, and Evolution","author":"Swanson CP","year":"1981"},{"key":"e_1_2_1_23_1","first-page":"58","article-title":"Paracentric inversion of chromosome 14 plus rare 9p variant in a couple with habitual spontaneous abortion","volume":"35","author":"Turczynowicz S","year":"1992","journal-title":"Ann Genet"},{"key":"e_1_2_1_24_1","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints","volume":"49","author":"Warburton D","year":"1991","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470610","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470610","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T07:17:18Z","timestamp":1698218238000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,11]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,11]]}},"alternative-id":["10.1002\/ajmg.1320470610"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470610","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,11]]}}}