{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T05:21:06Z","timestamp":1697865666194},"reference-count":23,"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":7307,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a child with Wolf\u2010Hirschhorn syndrome with the karyotype 45,XY,inv(9)(pllq13)pat, \u22124, \u221221, +der(4),t(4;21)(p15.3;q11.2)mat. This is the second case known to us of Wolf\u2010Hirschhorn syndrome caused by 1:3 segregation of a parental rearrangement. This mode of segregation can be predicted in both cases by a pachytene\u2010diagram model. It is uncertain whether or not the proximal 21q monosomy in this case has affected the phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.1320210218","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:24:51Z","timestamp":1118496291000},"page":"351-356","source":"Crossref","is-referenced-by-count":9,"title":["Wolf\u2010hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation"],"prefix":"10.1002","volume":"21","author":[{"given":"Kristine","family":"Bauer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia N.","family":"Howard\u2010Peebles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doman","family":"Keele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","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","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278725"},{"key":"e_1_2_1_3_1","volume-title":"Sex Differentiation and Chromosomal Abnormalities","author":"Carlin ME","year":"1978"},{"issue":"6","key":"e_1_2_1_3_2","first-page":"399","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1975.02120400066017"},{"key":"e_1_2_1_5_1","volume-title":"Dysmorphology","author":"Curry CJR","year":"1982"},{"issue":"3","key":"e_1_2_1_5_2","first-page":"275","volume":"18","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00953.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287173"},{"key":"e_1_2_1_8_1","first-page":"50","volume-title":"Clinical Atlas of Human Chromosomes","author":"deGrouchy J","year":"1984"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00909.x"},{"key":"e_1_2_1_10_1","first-page":"479","article-title":"Deletion of short arms of chromosome 4\u20135 in a child with defects of midline fusion","volume":"1","author":"Hirschhorn K","year":"1965","journal-title":"Humangenetik"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291769"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0001566000014239"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00167.x"},{"key":"e_1_2_1_14_1","volume-title":"New Chromosomal and Malformation Syndromes","author":"Mirkinson AE","year":"1975"},{"issue":"5","key":"e_1_2_1_14_2","first-page":"335","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152953"},{"key":"e_1_2_1_16_1","first-page":"363","article-title":"4p\u2010 phenotype in an infant with t(4p\u2010; 19p or q+)mat translocation","volume":"129","author":"Neu RL","year":"1975","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01850.x"},{"key":"e_1_2_1_18_1","first-page":"682","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1983"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00494.x"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295461"},{"key":"e_1_2_1_21_1","first-page":"397","article-title":"Defizienz an den kurzen Armen eines Chromosoms Nr. 4","volume":"1","author":"Wolf U","year":"1965","journal-title":"Humangenetik"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210218","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T21:40:53Z","timestamp":1697838053000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,6]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,6]]}},"alternative-id":["10.1002\/ajmg.1320210218"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210218","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,6]]}}}