{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:27:38Z","timestamp":1762997258850,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,6]]},"abstract":"<jats:p>A mentally and physically retarded boy with a 46,XY,ring (4) (p16q35) chromosome complement is described. Chromosome banding showed that the amount of chromosome material deleted from the ring chromosome 4 was minimal, apparently no more than the telomeres. Chromosomal aberrations appear to be restricted to the production of double-sized dicentric rings, and aneuploidy. The mosiacism resulting from the behavioural peculiarities of ring chromosomes is described as dynamic mosaicism. It is suggested that the clinical features associated with this ring chromosome are more likely to be the result of the effects of a diploid\/monosomy 4\/polysomy 4 mosaicism than to the deficiency of the telomeric regions of the chromosome.<\/jats:p>","DOI":"10.1136\/jmg.14.3.228","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"228-232","source":"Crossref","is-referenced-by-count":36,"title":["Ring chromosome 4."],"prefix":"10.1136","volume":"14","author":[{"given":"A","family":"McDermott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Voyce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Romain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,6,1]]},"reference":[{"key":"ref_1","first-page":"304","article-title":"Comparative behaviour of ring chromosomes","volume":"22","author":"Kistenmacher, M.L.; Punnett, H.H.","year":"1970","unstructured":"Kistenmacher, M. L., and Punnett, H. H. (1970). Comparative behaviour of ring chromosomes. American Journal of Huiman Genetics, 22, 304-318.","journal-title":"American Journal of Huiman Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/genetics\/23.4.315","article-title":"The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behaviour of ring-shaped chromosomes","volume":"23","author":"McClintock, B.","year":"1938","unstructured":"McClintock, B. (1938). The production of homozygous deficient tissues with mutant characteristics by means of the aberrant mitotic behaviour of ring-shaped chromosomes. Genetics, 23, 315-376.","journal-title":"Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000130435","article-title":"Points of exchange in a human No. 5. ring chromosome","volume":"12","author":"Nakagome, Y.; linuma, K.; Taniguchi, K.","year":"1973","unstructured":"Nakagome, Y., linuma, K., and Taniguchi, K. (1973). Points of exchange in a human No. 5. ring chromosome. Cytogenetics and Cell Genetics, 12, 35-39.","journal-title":"Cytogenetics and Cell Genetics"},{"key":"ref_4","first-page":"371","article-title":"A child with a ring-4 chromosome (46, XX\/46, XX,+4)","volume":"128","year":"1974","unstructured":"Parker, C. E., Alfi, 0. S., Derenesenyi, A., Mavalwala, J., and Donnell, G. (1974). A child with a ring-4 chromosome (46,XX\/46,XX,+4). American Journal of Diseases of Clhildren, 128, 371-374.","journal-title":"American Journal of Diseases of Clhildren"},{"key":"ref_5","unstructured":"The female fetus was fresh and weighed 371 g, crown-rump length 17 cm. This is small for 24 weeks (630 g and 20-7 cm, Streeter, 1921). The face (Fig.) was strikingly odd. There was ocular hypertelorism and the eyes were open and bulging. There was micrognathia, lowset ears, a high arched palate, cleft Prenatal recognition of 4psyndrome","article-title":"The female fetus was fresh and weighed 371 g, crown-rump length 17 cm. This is small for 24 weeks (630 g and 20-7 cm, Streeter, 1921). The face (Fig.) was strikingly odd. There was ocular hypertelorism and the eyes were open and bulging. There was micrognathia, lowset ears, a high arched palate, cleft Prenatal recognition of 4psyndrome"},{"key":"ref_6","unstructured":"Deletion of a portion of the short arm ofchromosome number four is associated with a constellation of defects, first recognised as a distinct syndrome by Wolf and his colleagues in 1965. The most common features are severe growth retardation, profound mental deficiency, hypotonia, multiple craniofacial anomalies, cardiac defects, genital anomalies, midline scalp defects, and dermatoglyphic abnormalities. Despite these defects, the condition is compatible","article-title":"Deletion of a portion of the short arm ofchromosome number four is associated with a constellation of defects, first recognised as a distinct syndrome by Wolf and his colleagues in 1965. The most common features are severe growth retardation, profound mental deficiency, hypotonia, multiple craniofacial anomalies, cardiac defects, genital anomalies, midline scalp defects, and dermatoglyphic abnormalities. Despite these defects, the condition is compatible"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.3.228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:57:01Z","timestamp":1760727421000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.3.228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,6]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1977,6,1]]},"published-print":{"date-parts":[[1977,6]]}},"alternative-id":["10.1136\/jmg.14.3.228"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.3.228","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,6]]}}}