{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T22:37:19Z","timestamp":1757543839970},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7034,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich\u2010Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed greatvessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.<\/jats:p>","DOI":"10.1002\/ajmg.1320230302","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:30Z","timestamp":1118520210000},"page":"739-749","source":"Crossref","is-referenced-by-count":28,"title":["Trisomy 22 mosaicism syndrome and Ullrich\u2010Turner stigmata"],"prefix":"10.1002","volume":"23","author":[{"given":"W.","family":"Wertelecki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. R.","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"J. M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Iinuma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. M.","family":"Puck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. R.","family":"Sergovich","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":[{"issue":"1","key":"e_1_2_1_2_1","first-page":"37","article-title":"Trisomy 22q12\u2010qter of a pericentric inversion","volume":"24","author":"Cantu JM","year":"1981","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_3_1","first-page":"362","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1984"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.473"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01270.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040704"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-68006-9_9"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.280"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00895.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1542\/peds.68.1.23","article-title":"Diploid\u2010triploid mixoploidy: Clinical and cytogenetic aspects","volume":"68","author":"Graham JM","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_1","first-page":"551","article-title":"Congenital asymmetry associated with trisomy 18 mosaicism","volume":"110","author":"Hook EB","year":"1965","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80052-5"},{"key":"e_1_2_1_14_1","first-page":"13","article-title":"Ovarian dysgenesis and chromosome abnormalities","volume":"50","author":"Kennedy JF","year":"1977","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284771"},{"key":"e_1_2_1_16_1","first-page":"123","article-title":"The origin of mosaic Down syndrome: four cases with chromosome markers","volume":"36","author":"Niikawa N","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00280832"},{"key":"e_1_2_1_18_1","first-page":"54","article-title":"Abnormal skin fibroblasts in four dysmorphic patients with normal lymphocyte chromosomes","volume":"31","author":"Pagon RA","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","first-page":"733","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274677"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152488"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00600.x"},{"key":"e_1_2_1_23_1","first-page":"261","volume-title":"Human Embryonic and Fetal Death","author":"Warburton D","year":"1980"},{"key":"e_1_2_1_24_1","first-page":"136","article-title":"Trisomy 22 mosaicism: Turner stigmata and asymmetry","volume":"2","author":"Wertelecki W","year":"1983","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_25_1","first-page":"102","volume-title":"Chromosomes of Man","author":"Zellweger H","year":"1977"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T15:59:15Z","timestamp":1697817555000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,3]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,3]]}},"alternative-id":["10.1002\/ajmg.1320230302"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230302","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,3]]}}}