{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969659},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7458,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 9\u2010year\u2010old boy was referred for evaluation of multiple anomalies and mental retardation. Skeletal abnormalities had been noted at birth: joint contractures, right acetabular \u201cdysplasia,\u201d ulno\u2010fibular dysostosis, and bilateral talipes equinovarus with calcaneocuboid fusion. Additional findings at 9 years included short stature, unusual facial appearance, camptodactyly of several digits, undescended testes, and syndactyly of toes 4 and 5. On psychological testing he was found to be moderately retarded. Cytogenetic analysis of chromosome bands using Q, GTG, R, and C banding showed an interstitial deletion of 21q; karyotype designation: 46, XY, del (21) (pter\u2192q11.2::q22.1\u2192qter). Parental chromosomes were normal. Manifestations in this boy, including the joint contractures, are similar to those described in the monosomy 21 syndrome. Ulno\u2010fibular dysostosis has not been reported previously with abnormalities of chromosome 21. To our knowledge, this is the second patient reported with an interstitial deletion of chromosome 21, and the patients are phenotypically dissimilar.<\/jats:p>","DOI":"10.1002\/ajmg.1320200121","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:56:26Z","timestamp":1118519786000},"page":"173-180","source":"Crossref","is-referenced-by-count":22,"title":["De novo 21q interstitial deletion in a retarded boy with ulno\u2010fibular dysostosis"],"prefix":"10.1002","volume":"20","author":[{"given":"James F.","family":"Reynolds","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herman E.","family":"Wyandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thaddeus E.","family":"Kelly","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":"10.1002\/ajmg.1320040311"},{"key":"e_1_2_1_3_1","first-page":"220","article-title":"Separating monosomy\u201021 from the \u201carthrogryposis basket\u201d","volume":"32","author":"Houston CS","year":"1981","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273126"},{"key":"e_1_2_1_5_1","first-page":"4187","article-title":"Monosomie partielle pour un petit acrocentrique","volume":"259","author":"Lejeune J","year":"1964","journal-title":"CR Acad Sci (Paris)"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01436.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120408"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1228228"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569984"},{"key":"e_1_2_1_10_1","first-page":"110","article-title":"A simple R banding technique","volume":"27","author":"Verma RS","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"122","article-title":"Une m\u00e9thode simple pour obt\u00e9nir des prophases et des prom\u00e9taphases","volume":"21","author":"Viegas\u2010Pequignot E","year":"1978","journal-title":"Ann Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02817763"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80209-8"},{"key":"e_1_2_1_14_1","first-page":"77","article-title":"Identification by fluorescent microscopy of the abnormal chromosomes associated with the G\u2010deletion syndrome","volume":"25","author":"Warren RJ","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01856.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200121","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T12:46:55Z","timestamp":1697892415000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,1]]}},"alternative-id":["10.1002\/ajmg.1320200121"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200121","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,1]]}}}