{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:39Z","timestamp":1764171819786},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8099,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a kindred in which an ins(10;8)(q21;q212q22) chromosome rearrangement has been segregating for at least four generations. The risk for balanced carriers to have offspring with duplication of 8q212\u21928q22 is about 0.31. Individuals with unbalanced chromosomes are mildly to moderately mentally retarded and have a similar unusual appearance. Other manifestations include highly arched or cleft palate (8\/9), micrognathia (6\/9), sloped shoulders (4\u20136\/9), convulsions (4\/9), camptodactyly (3\/9), pectus excavatum (2\/9), elbow contractures (1\/9), and postaxial polydactyly (1\/9). The appearance and habitus resemble the mosaic trisomy 8 syndrome, although other anomalies of mosaic trisomy 8, such as vertebral, patellar, and renal defects, were not demonstrated.<\/jats:p>","DOI":"10.1002\/ajmg.1320140407","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:49Z","timestamp":1118504089000},"page":"635-646","source":"Crossref","is-referenced-by-count":15,"title":["Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22)"],"prefix":"10.1002","volume":"14","author":[{"given":"P.","family":"Bowen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. H.","family":"Fitzgerald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J. M.","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Biederman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M. O.","family":"Veale","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":"crossref","first-page":"826","DOI":"10.1542\/peds.56.5.826","article-title":"Trisomy 8 syndrome","volume":"56","author":"Cassidy SB","year":"1975","journal-title":"Pediatrics"},{"key":"e_1_2_1_3_1","first-page":"3179","article-title":"Coloration des chromosomes des humains par l'acridine orange apres traitement par le 5 bromod\u00e9oxyuridine","volume":"276","author":"Dutrillaux B","year":"1973","journal-title":"C R Acad Sci"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1542\/peds.56.5.762","article-title":"Trisomy 8 mosaicism syndrome","volume":"56","author":"Fineman RM","year":"1975","journal-title":"Pediatrics"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01347.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130909"},{"key":"e_1_2_1_7_1","volume-title":"New Chromosomal Syndromes","author":"Pfeiffer RA","year":"1977"},{"key":"e_1_2_1_8_1","volume-title":"Annual Review of Birth Defects, 1976: Natural History of Specific Birth Defects","author":"Riccardi VM","year":"1977"},{"issue":"3","key":"e_1_2_1_8_2","first-page":"171","author":"The National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284772"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272513"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293767"},{"key":"e_1_2_1_12_1","first-page":"363","article-title":"Reply to VM Riccardi and BF Crandall","volume":"41","author":"Schinzel A","year":"1978","journal-title":"Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1970.tb01651.x"},{"key":"e_1_2_1_14_1","first-page":"498","article-title":"Inherited partial trisomy 8q(22 \u2192 qter)","volume":"132","author":"Townes PL","year":"1978","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/newbio235052a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320140407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320140407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T17:23:19Z","timestamp":1697736199000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320140407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,4]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1983,4]]}},"alternative-id":["10.1002\/ajmg.1320140407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320140407","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,4]]}}}