{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:06:34Z","timestamp":1792166794060,"version":"4.4.0"},"reference-count":9,"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":9650,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero\u2010ulnar and femoro\u2010tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.<\/jats:p>","DOI":"10.1002\/ajmg.1320040305","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:32:43Z","timestamp":1118511163000},"page":"231-238","source":"Crossref","is-referenced-by-count":32,"title":["The SC phocomelia syndrome: Report of two cases with cytogenetic abnormality"],"prefix":"10.1002","volume":"4","author":[{"given":"Q. H.","family":"Qazi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. G.","family":"Kassner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Masakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Madahar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. J.","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_2","series-title":"BD:OAS","first-page":"1","volume-title":"Limb Malformations","author":"Lenz W","year":"1969"},{"key":"e_1_2_1_3_2","series-title":"BD:OAS","first-page":"81","volume-title":"Limb Malformations","author":"Herrmann J","year":"1969"},{"key":"e_1_2_1_4_2","series-title":"BD:OAS","first-page":"97","volume-title":"Limb Malformations","author":"Lenz WD","year":"1974"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1974.tb01652.x","article-title":"The Roberts syndrome","volume":"10","author":"Freeman MVW","year":"1974","journal-title":"Clin Genet"},{"key":"e_1_2_1_6_2","series-title":"BD:OAS","first-page":"287","volume-title":"Morphogenesis and Malformation of the Limb","author":"Ruffing L","year":"1977"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00489985"},{"key":"e_1_2_1_8_2","series-title":"BD:OAS","first-page":"249","volume-title":"New Syndromes","author":"Perrin J","year":"1977"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1973.tb128828.x"},{"key":"e_1_2_1_10_2","unstructured":"TomkinsDJ:Cytogenetic findings in Roberts\u2010SC phocomelia syndrome. Program and Abstracts the American Society of Human Genetics 29th Annual Meeting Vancouver Canada October 4\u20137 1978 p95A."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320040305","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320040305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:54:06Z","timestamp":1699836846000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320040305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320040305"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320040305","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}