{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:17:29Z","timestamp":1698106649919},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":6722,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:p>A 12\u2010year\u2010old boy with a history of a mewing cry after birth, severe mental retardation, Marfanoid arachnodactyly, general osteomalacia and multiple bone fractures was found to have a <jats:italic>de now<\/jats:italic> 5p;12q chromosomal translocation. The karyotype is 46,XY,t(5;12)(12qter\u2192 12q24.1::5p15\u2192cen\u21925qter;12pter\u2192cen\u219212q24.1). The karyotypes of other examined family members are normal. The manifestations of cri du chat syndrome are explained by the loss of a small segment of 5p15 which is responsible for the major stigmata of the syndrome, and the abnormalities of the osseous system may be the results of untreated vitamin D resistant rickets.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1990.tb03493.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T04:26:50Z","timestamp":1279513610000},"page":"153-157","source":"Crossref","is-referenced-by-count":3,"title":["5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly"],"prefix":"10.1111","volume":"37","author":[{"given":"Sjzhong","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongcai","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fupjng","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"N\u0153buhr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_2_1","unstructured":"Borgaonkar D. S. R.Shaffer R.Albright W. C.Reed&L. G.Jackson(1983).Repository of Chromosomal Variants and Anomalies in Man. 10th Listing. Wilmington Delaware Wilmington Medical Center."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130909"},{"key":"e_1_2_1_4_1","first-page":"279","article-title":"Identification of two familial translocations","volume":"17","author":"Laurent C.","year":"1974","journal-title":"Ann. Genet."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00562.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283634"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00394291"},{"key":"e_1_2_1_8_1","volume-title":"Progress in Clinical Pathology","author":"Yunis J. J.","year":"1977"},{"key":"e_1_2_1_9_1","first-page":"210","article-title":"G\u2010banding of human chromosomes","volume":"59","author":"Zhang S.","year":"1979","journal-title":"Chin. Med. J."}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.1990.tb03493.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.1990.tb03493.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T14:32:58Z","timestamp":1697985178000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.1990.tb03493.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,2]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1990,2]]}},"alternative-id":["10.1111\/j.1399-0004.1990.tb03493.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.1990.tb03493.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,2]]}}}