{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T13:31:25Z","timestamp":1774099885484,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,9]]},"abstract":"<jats:p>A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.<\/jats:p>","DOI":"10.1136\/jmg.10.3.299","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"299-303","source":"Crossref","is-referenced-by-count":53,"title":["Developmental Abnormalities Associated with a Ring Chromosome 6"],"prefix":"10.1136","volume":"10","author":[{"given":"C. M.","family":"Moore","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. H.","family":"Heller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. H.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,9,1]]},"reference":[{"key":"ref_1","author":"Atkins, L.; Pant, S.S.; Hazard, G.W.; Ouellette, E.","year":"1966","unstructured":"Atkins, L., Pant, S. S., Hazard, G. W., and Ouellette, E. M. (1966\/67)."},{"key":"ref_2","first-page":"63","article-title":"Primordial dwarfism and mental deficiency associated with a group C annular chromosome","volume":"21","author":"Bueno, M.; Amo, A.del; Hermida, F.","year":"1969","unstructured":"Bueno, M., Amo, A. del and Hermida, F. (1969). Primordial dwarfism and mental deficiency associated with a group C annular chromosome. Genetica Iberica, 21, 63-80.","journal-title":"Genetica Iberica"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.4.4.295","article-title":"An infant with multiple congenital anomalies and a ring chromosome in group C(X-6-12)","volume":"4","author":"Butler, L.J.; France, N.E.; Jacoby, N.M.","year":"1967","unstructured":"Butler, L. J., France, N. E., and Jacoby, N. M. (1967). An infant with multiple congenital anomalies and a ring chromosome in group C(X-6-12). journal of Medical Genetics, 4, 295-298.","journal-title":"journal of Medical Genetics"},{"key":"ref_4","author":"Chieri, P.R.de; Albores, J.M.; Cosin, A.; Cosin, J.M.","year":"1972","unstructured":"Chieri, P. R. de, Albores, J. M., Cosin, A., and Cosin, J. M. (1972)."},{"key":"ref_5","article-title":"Familial occurrence","author":"Gacs, G.; Schuler, D.; Sellyei, M.","year":"1970","unstructured":"Gacs, G., Schuler, D., and Sellyei, M. (1970). Familial occurrence"},{"key":"ref_6","article-title":"Observations on variations in the human karyotype","volume":"111","author":"Gripenberg, U.","year":"1967","unstructured":"Gripenberg, U. (1967). Observations on variations in the human karyotype. Annales Academiae Scientiarum Fennicae, Series A, section IV Biologica, no. 111.","journal-title":"Annales Academiae Scientiarum Fennicae, Series A, section IV Biologica"},{"key":"ref_7","first-page":"102","article-title":"A ring chromosome in man","author":"Smnith-White, S.; Peacock, W.J.; Turner, B.; Dulk, G.M.","year":"1963","unstructured":"Smnith-White, S., Peacock, W. J., Turner, B., and Dulk, G. M. den (1963). A ring chromosome in man. Nature, 197, 102-103.","journal-title":"Nature"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/jmg.8.2.227","article-title":"A group-C ring chromosome in a mentally deficient male","volume":"8","author":"Therkelsen, A.J.; Moller, B.; Henningsen, K.","year":"1971","unstructured":"Therkelsen, A. J., Moller, B., and Henningsen, K. (1971). A group-C ring chromosome in a mentally deficient male. Journal of Medical Genetics, 8, 227-230.","journal-title":"Journal of Medical Genetics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"56","DOI":"10.5694\/j.1326-5377.1962.tb19973.x","article-title":"A self-perpetuating ring chromosome","volume":"2","author":"Turner, B.; Jennings, A.N.; Dulk, G.M.den; Stapleton, T.","year":"1962","unstructured":"Turner, B., Jennings, A. N., Dulk, G. M. den, and Stapleton, T. (1962). A self-perpetuating ring chromosome. Medical Journal of Australia, 2, 56-58.","journal-title":"Medical Journal of Australia"},{"key":"ref_10","first-page":"184","article-title":"Mental deficiency and malformations in a boy with a group-C ring chromosome: 46, XY, Cr","volume":"13","author":"Wurster, D.; Pomeroy, J.; Benirschke, K.; Hoefnagel, D.","year":"1969","unstructured":"Wurster, D., Pomeroy, J., Benirschke, K., and Hoefnagel, D. (1969). Mental deficiency and malformations in a boy with a group-C ring chromosome: 46,XY,Cr. Journal of Mental Deficiency Research, 13, 184-190.","journal-title":"Journal of Mental Deficiency Research"},{"key":"ref_11","article-title":"The necropsy examination confirmed the above cardiovascular anomalies, and revealed in addition a total anomalous pulmonary venous return to the left superior vena cava, trilobulated left lung, malrotation of gut, and hypoplastic spleen","volume-title":"Received","year":"1973","unstructured":"The necropsy examination confirmed the above cardiovascular anomalies, and revealed in addition a total anomalous pulmonary venous return to the left superior vena cava, trilobulated left lung, malrotation of gut, and hypoplastic spleen. Received 16 April 1973."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.3.299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:06:13Z","timestamp":1760735173000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.3.299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,9]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1973,9,1]]},"published-print":{"date-parts":[[1973,9]]}},"alternative-id":["10.1136\/jmg.10.3.299"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.3.299","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,9]]}}}