{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:19:29Z","timestamp":1760833169642,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,6]]},"abstract":"<jats:p>A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and microcephaly among others. Dermatoglyphic studies showed an increased number of ulnar loops. More interestingly, bilateral transverse hypothenar creases were noted. Two of the reported cases also had unspecified genital abnormalities. The variation in clinical findings among these patients may be explained by a difference in the breakpoints on chromosome 17.<\/jats:p>","DOI":"10.1136\/jmg.18.3.234","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"234-236","source":"Crossref","is-referenced-by-count":24,"title":["An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?"],"prefix":"10.1136","volume":"18","author":[{"given":"N J","family":"Carpenter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L G","family":"Leichtman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Stamper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Say","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"ii:","author":"Seabright, M.","year":"1971","unstructured":"Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;ii:971-2.","journal-title":"Lancet"},{"key":"ref_2","first-page":"55","article-title":"Etude d'une mosaique 46, XX\/ 46, XX,17r","volume":"14","author":"Petit, P.; Koulischer, L.","year":"1971","unstructured":"Petit P, Koulischer L. Etude d'une mosaique 46,XX\/ 46,XX,17r. Ann Genet (Paris) 1971;14:55-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","first-page":"353","article-title":"Un caz familial de chromozom din grupa e in inel","volume":"77","author":"Burdea, M.; Lupascu, E.; Margineanu, L.","year":"1973","unstructured":"Burdea M, Lupascu E, Margineanu L. Un caz familial de chromozom din grupa e in inel (1 7)r cu transmitere de la tata la fiu. Rev Med Chir Soc Med Nat Iasi 1973;77: 353-7.","journal-title":"Rev Med Chir Soc Med Nat Iasi; 7)r cu transmitere de la tata la fiu"},{"key":"ref_4","first-page":"235","article-title":"A case of ring chromosome and 17: 46, XX, r(17)(pl 3q25)","volume":"19","author":"Ono, K.; Suzuki, Y.; Fuijii, I.; Takeshita, K.; Arima, M.; Nakagome, Y.","year":"1974","unstructured":"Ono K, Suzuki Y, Fuijii I, Takeshita K, Arima M, Nakagome Y. A case of ring chromosome and 17:46, XX,r(17)(pl 3q25). Jpn J Hum Genet 1974;19:235-42.","journal-title":"Jpn J Hum Genet"},{"key":"ref_5","first-page":"26972","article-title":"Ring 17 chromosome detected by amniocentesis","volume":"28","author":"Weinberg, A.G.; Bair, J.L.; Harrod, M.J.","year":"1975","unstructured":"Weinberg AG, Bair JL, Harrod MJ. Ring 17 chromosome detected by amniocentesis. Humangenetik 1975;28:26972.","journal-title":"Humangenetik"},{"key":"ref_6","first-page":"234","article-title":"Ring chromosome 17 in a mentally retarded boy","volume":"22","author":"Qazi, Q.H.; Madahar, C.; Kanchanapoom, R.; Giridharan, R.; Beller, E.","year":"1979","unstructured":"Qazi QH, Madahar C, Kanchanapoom R, Giridharan R, Beller E. Ring chromosome 17 in a mentally retarded boy. Ann Genet (Paris) 1979;22:234-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_7","article-title":"Repository of chromosomal variants and anomalies in man. Sixth listing","author":"Borgaonkar, D.S.","year":"1979","unstructured":"Borgaonkar DS. Repository of chromosomal variants and anomalies in man. Sixth listing. Denton, Texas: Genetics Center and Department of Biological Sciences, 1979."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.3.234","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:01:17Z","timestamp":1760774477000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.3.234"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,6]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1981,6,1]]},"published-print":{"date-parts":[[1981,6]]}},"alternative-id":["10.1136\/jmg.18.3.234"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.3.234","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,6]]}}}