{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:40:02Z","timestamp":1760773202880,"version":"build-2065373602"},"reference-count":24,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.<\/jats:p>","DOI":"10.1136\/jmg.14.6.447","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"447-451","source":"Crossref","is-referenced-by-count":4,"title":["Supernumerary small ring chromosome."],"prefix":"10.1136","volume":"14","author":[{"given":"S","family":"Kaffe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H J","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L Y","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C B","family":"Brill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","first-page":"83","article-title":"The syndrome of the metacentric microchromosome","volume":"25","author":"Abbo, G.; Zellweger, H.","year":"1970","unstructured":"Abbo, G., and Zellweger, H. (1970). The syndrome of the metacentric microchromosome. Helvetica Paediatrica Acta, 25, 83-94.","journal-title":"Helvetica Paediatrica Acta"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1136\/jmg.10.2.187","article-title":"Partial trisomy of the long arm of chromosome 7","volume":"10","year":"1973","unstructured":"Alfi, 0. S., Donnell, G. N., and Kramer, S. L. (1973). Partial trisomy of the long arm of chromosome 7. Journal of Medical Genetics, 10, 187.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","first-page":"207","article-title":"Report of 5 unrelated patients with a small, metacentric, extrachromosome or fragment","volume":"19","author":"Borgaonkar, D.S.; Schimke, R.N.; Thomas, G.H.","year":"1971","unstructured":"Borgaonkar, D. S., Schimke, R. N., and Thomas, G. H. (1971). Report of 5 unrelated patients with a small, metacentric, extrachromosome or fragment. Journal de Genetique Humaine, 19, 207-222.","journal-title":"Journal de Genetique Humaine"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"87","DOI":"10.3109\/10520297209116456","article-title":"Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography","volume":"47","author":"Breg, E.R.","year":"1972","unstructured":"Breg, E. R. (1972). Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography. Stain Technology, 47, 87-93.","journal-title":"Stain Technology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1469-1809.1962.tb01312.x","article-title":"An aberrant small acrocentric chromosome","volume":"26","author":"Ellis, J.R.; Marshall, R.; Penrose, L.S.","year":"1962","unstructured":"Ellis, J. R., Marshall, R., and Penrose, L. S. (1962). An aberrant small acrocentric chromosome. Annals of Human Genetics, 26, 77-83.","journal-title":"Annals of Human Genetics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1159\/000129771","article-title":"Multiple anomalies associated with an extra small autosome","volume":"2","author":"Froland, A.; Holst, G.; Terslev, E.","year":"1963","unstructured":"Froland, A., Holst, G., and Terslev, E. (1963). Multiple anomalies associated with an extra small autosome. Cytogenetics, 2, 99-106.","journal-title":"Cytogenetics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1111\/j.1601-5223.1966.tb02052.x","article-title":"A case of mental retardation with an additional small metacentric chromosome","volume":"55","author":"Gamstorp, I.; Hakensson, L.; Lagergren, J.","year":"1966","unstructured":"Gamstorp, I., Hakensson, L., and Lagergren, J. (1966). A case of mental retardation with an additional small metacentric chromosome. Hereditas, 55, 266-277.","journal-title":"Hereditas"},{"key":"ref_8","first-page":"106","article-title":"Ring 4 chromosome: ring autosomes, Lorelei of clinical karyotype correlation and deletion mapping","volume":"V,","author":"Hecht, F.","year":"1969","unstructured":"Hecht, F. (1969). Ring 4 chromosome: ring autosomes, Lorelei of clinical karyotype correlation and deletion mapping. Birth Defects, Original Article Series V, 106-113.","journal-title":"Birth Defects, Original Article Series"},{"key":"ref_9","first-page":"99","article-title":"Autosomal rings and variable phenotypes","volume":"17","author":"Hecht, F.; Vlietinck, R.F.","year":"1973","unstructured":"Hecht, F., and Vlietinck, R. F. (1973). Autosomal rings and variable phenotypes. Humangenetik, 17, 99-100.","journal-title":"Humangenetik"},{"key":"ref_10","first-page":"479","article-title":"Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion","volume":"1","author":"Hirschhorn, K.; Cooper, H.L.; Firschein, I.L.","year":"1965","unstructured":"Hirschhorn, K., Cooper, H. L., and Firschein, I. L. (1965). Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik, 1, 479-482.","journal-title":"Humangenetik"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1111\/j.1469-1809.1973.tb00601.x","article-title":"Precise identification of various chromosomal abnormalities","volume":"36","author":"Hirschhorn, K.; Lucas, M.; Wallace, I.","year":"1973","unstructured":"Hirschhorn, K., Lucas, M., and Wallace, I. (1973). Precise identification of various chromosomal abnormalities. Annals of Human Genetics, 36, 375-379.","journal-title":"Annals of Human Genetics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/BF00281003","article-title":"Supernumerary small ring chromosome","volume":"25","author":"Hoo, J.J.; Forster, C.; Kinderman, I.; Zabel, B.; Hansen, S.","year":"1974","unstructured":"Hoo, J. J., Forster, C., Kinderman, I., Zabel, B., and Hansen, S. (1974). Supernumerary small ring chromosome. Humangenetik, 25, 17-28.","journal-title":"Humangenetik"},{"key":"ref_13","article-title":"Trisomy 22: a clinical entity","author":"Hirschhorn, K.","year":"1971","unstructured":"Hirschhorn, K. (1971). Trisomy 22: a clinical entity."},{"key":"ref_14","first-page":"12","volume":"79","author":"ofPediatrics, Journal","unstructured":"Journal ofPediatrics, 79, 12-19."},{"key":"ref_15","first-page":"213","article-title":"Trisomy of the short arm of chromosome","volume":"23","author":"Latta, E.; Hoo, J.J.","year":"1974","unstructured":"Latta, E., and Hoo, J. J. (1974). Trisomy of the short arm of chromosome 17. Humangenetik, 23, 213-217."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1111\/j.1601-5223.1975.tb01036.x","article-title":"Extra marker chromosome in newborn children","volume":"81","author":"Nielsen, J.; Rasmussen, K.","year":"1975","unstructured":"Nielsen, J., and Rasmussen, K. (1975). Extra marker chromosome in newborn children. Hereditas, 81, 221-224.","journal-title":"Hereditas"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/BF00281010","article-title":"Trisomy of the long arm of human chromosome 1","volume":"25","author":"Norwood, T.H.; Hoehn, H.","year":"1974","unstructured":"Norwood, T. H., and Hoehn, H. (1974). Trisomy of the long arm of human chromosome 1. Humangenetik, 25, 79-82.","journal-title":"Humangenetik"},{"key":"ref_18","first-page":"135","article-title":"C bands in human metaphase chromosomes treated by barium hydroxide","volume":"17","author":"Salamanca, F.; Armendares, S.","year":"1974","unstructured":"Salamanca, F., and Armendares, S. (1974). C bands in human metaphase chromosomes treated by barium hydroxide. Annales de Genetique, 17, 135.","journal-title":"Annales de Genetique"},{"key":"ref_19","first-page":"12","article-title":"Partial trisomy 11 in a child resulting from a complex maternal rearrangement of","volume":"11","author":"Sanchez, O.; Yunis, J.J.; Escobar, J.I.","year":"1974","unstructured":"Sanchez, O., Yunis, J. J., and Escobar, J. I. (1974). Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12, 13. Humangenetik, 22, 59.","journal-title":"chromosomes"},{"key":"ref_20","first-page":"12","article-title":"Recognizable Patterns of Human Malformation","author":"Smith, D.W.","year":"1976","unstructured":"Smith, D. W. (1976). Recognizable Patterns of Human Malformation. pp. 12-15. Saunders, New York."},{"key":"ref_21","article-title":"ring chromosome 7 (Zackai and Breg 1973), 1 patient with a ring chromosome","volume-title":"8 (Pfeiffer and Lenard; and 5 patients with a ring chromosome","author":"Punnett, 1970, Jacobsen","year":"1973","unstructured":"ring chromosome 7 (Zackai and Breg 1973), 1 patient with a ring chromosome 8 (Pfeiffer and Lenard, 1973), and 5 patients with a ring chromosome 9 (Kistenmacher and Punnett, 1970; Jacobsen et al., 1973; Fraisse et al., 1974; Zdansky et al., 1975; Nakajima et al., 1976). In the case of Kistenmacher and Punnett the identification was based on morphology and study of the exchange pattern induced by mitomicin C."},{"key":"ref_22","article-title":"The propositus","volume-title":"is the first of two children. At birth his mother was 25 and his father was 28 years old. There were no abortions or stillbirths. Unaware of her pregnancy the mother underwent an appendectomy on account of chronic appendicitis on the 18th day of her last menstrual cycle (premedication: 0-5 mg atropine, 25 mg promethazine, 20 mg pantopon; narcotics: thiopenthone-sodium, suxamethonium-chloride, nitrous Ring chromosome 8 in a boy with oxide, and fluothane). Gestation was uneventful and ended 13 days after multiple congenital abnormalities and mental retardation term. Birthweight was 2770 g, length 47 cm. Feeding was very difficult in the neonatal period. At 14 years of age the boy suffered from feverish convulsions. When he was 2 years old he was operated on for bilateral hernia inguinalis. Because of an im","year":"1967","unstructured":"The propositus (born 13 October 1967) is the first of two children. At birth his mother was 25 and his father was 28 years old. There were no abortions or stillbirths. Unaware of her pregnancy the mother underwent an appendectomy on account of chronic appendicitis on the 18th day of her last menstrual cycle (premedication: 0-5 mg atropine, 25 mg promethazine, 20 mg pantopon; narcotics: thiopenthone-sodium, suxamethonium-chloride, nitrous Ring chromosome 8 in a boy with oxide, and fluothane). Gestation was uneventful and ended 13 days after multiple congenital abnormalities and mental retardation term. Birthweight was 2770 g, length 47 cm. Feeding was very difficult in the neonatal period. At 14 years of age the boy suffered from feverish convulsions. When he was 2 years old he was operated on for bilateral hernia inguinalis. Because of an im-"},{"key":"ref_23","article-title":"femoralis was located laterally in the acetabulum","author":"den Berghe, Van","year":"1974","unstructured":"; Van den Berghe et al., 1974; Fried et al., 1975; femoralis was located laterally in the acetabulum"},{"key":"ref_24","article-title":"patients with a and that the right femur was adducted, the right side","author":"Wurster-Hill; Hoefnagel","year":"1975","unstructured":"Wurster-Hill and Hoefnagel, 1975), 2 patients with a and that the right femur was adducted, the right side"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.6.447","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:15:27Z","timestamp":1760771727000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.6.447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":24,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1977,12,1]]},"published-print":{"date-parts":[[1977,12]]}},"alternative-id":["10.1136\/jmg.14.6.447"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.6.447","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}