{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:34:46Z","timestamp":1760729686987},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":9289,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25\u21926qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down\u2010turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25\u21926qter syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320050211","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:34:52Z","timestamp":1118511292000},"page":"171-178","source":"Crossref","is-referenced-by-count":21,"title":["Trisomy 6q25\u21926qter in two sisters resulting from maternal 6;11 translocation"],"prefix":"10.1002","volume":"5","author":[{"given":"Constance E.","family":"Clark","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry R.","family":"Cowell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary A.","family":"Telfer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela A.","family":"Casey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"384","volume-title":"Human Cytogenetics","author":"Dhadial R","year":"1971"},{"key":"e_1_2_1_3_2","first-page":"539","article-title":"Banding analysis of abnormal karyotypes in spontaneous abortion","volume":"25","author":"Kajii T","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1978.tb00914.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295626"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(64)90688-9"},{"key":"e_1_2_1_7_2","first-page":"171","article-title":"Trisomie C partielle par translocation familiale t(Cq+;Cq\u2010)","volume":"11","author":"Lejeune J","year":"1968","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_8_2","first-page":"133","article-title":"Trisomie partielle pour le bras long d'un C (\u20326) par translocation t(Gp+:Cqs+)","volume":"12","author":"DeGrouchy J","year":"1969","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_9_2","series-title":"Birth Defects: Original Article Series","first-page":"267","volume-title":"Acrocephalosyndactyly and partial trisomy 6","author":"Robertson KP","year":"1975"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01625.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02127.x"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273311"},{"key":"e_1_2_1_13_2","volume-title":"Repository of Chromosomal Variants and Anomalies in Man","author":"Borgaonkar DS","year":"1977"},{"key":"e_1_2_1_14_2","unstructured":"SeabrightM: Personal communication 1977."},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1971.tb02363.x"},{"key":"e_1_2_1_17_2","first-page":"308","article-title":"An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage","volume":"52","author":"Mennuti MT","year":"1978","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04127.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.1320050211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320050211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T01:51:30Z","timestamp":1699840290000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320050211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,1]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,1]]}},"alternative-id":["10.1002\/ajmg.1320050211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320050211","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,1]]}}}