{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:41:18Z","timestamp":1760740878085,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,8]]},"abstract":"<jats:p>A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal abnormality are described. These characteristics may constitute a recognisable clinical syndrome.<\/jats:p>","DOI":"10.1136\/jmg.21.4.307","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"307-310","source":"Crossref","is-referenced-by-count":13,"title":["Deletion of the short arm of chromosome 3: a case report with necropsy findings."],"prefix":"10.1136","volume":"21","author":[{"given":"D","family":"Beneck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Suhrland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Dicker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Greco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S R","family":"Wolman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1001\/archpedi.1978.02120260045012","article-title":"A patient with a partial deletion of the short arm of chromosome 3","volume":"132","author":"Verjaal, N.; DeNef, J.","year":"1978","unstructured":"Verjaal N, DeNef J. A patient with a partial deletion of the short arm of chromosome 3. Am J Dis Child 1978; 132:43-5.","journal-title":"Am J Dis Child"},{"key":"ref_2","first-page":"119","article-title":"Deletion partielle du bras court du chromosome 3","volume":"23","author":"Gonzales, J.; Lesourd, S.; Braconnier, A.","year":"1980","unstructured":"Gonzales J, Lesourd S, Braconnier A. Deletion partielle du bras court du chromosome 3. Ann Genet (Paris) 1980; 23:119-22."},{"key":"ref_3","first-page":"211","article-title":"Partial deletion of the short arm of chromosome 3","volume":"135","author":"Merrild, U.; Berggreon, S.; Hansen, L.; Mikkelsen, M.; Henningsen, K.","year":"1981","unstructured":"Merrild U, Berggreon S, Hansen L, Mikkelsen M, Henningsen K. Partial deletion of the short arm of chromosome 3. EurJPediatr 1981;135:211-6.","journal-title":"EurJPediatr"},{"key":"ref_4","article-title":"The phenotype of partial monosomy 3(p25 pter) observed in two unrelated patients","volume-title":"Abstracts of the Symposium of the European Society of Human Genetics, Zurich","author":"JM, Garcia Sagredo; A, Quintana Castilla; MC, Ludena Carpio","year":"1981","unstructured":"Garcia Sagredo JM, Quintana Castilla A, Ludena Carpio MC. The phenotype of partial monosomy 3(p25 pter) observed in two unrelated patients. Abstracts of the Symposium of the European Society of Human Genetics, Zurich, 25-26 March 1981:69."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1136\/jmg.19.1.71","article-title":"A second patient with partial deletion of the short arm of chromosome 3: karyotype 46, XY","volume":"19","author":"Higginbottom, M.C.; Mascarello, J.T.; Hassin, H.; McCord, W.K.","year":"1982","unstructured":"Higginbottom MC, Mascarello JT, Hassin H, McCord WK. A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25). J Med Genet 1982;19:71-3.","journal-title":"J Med Genet"},{"key":"ref_6","article-title":"Congenital malformations. Notes and comments","author":"Warkany, J.","year":"1971","unstructured":"Warkany J. Congenital malformations. Notes and comments. Chicago: Year Book Medical Publishers, 1971."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1159\/000182941","article-title":"Renal cysts in pediatric autopsy material","volume":"33","year":"1983","unstructured":"Mir S, Rapola J, Koskimies 0. Renal cysts in pediatric autopsy material. Nephron 1983;33:189-95.","journal-title":"Nephron"},{"key":"ref_8","volume-title":"Clinical genetics","author":"Sorsby, A.","year":"1973","unstructured":"Sorsby A, ed. Clinical genetics. 2nd ed. London: Butterworth, 1973.","edition":"2nd ed"},{"article-title":"SUMMARY An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which Received for publication 25 November 1983. Accepted for publication","year":"1983","key":"ref_9","unstructured":"SUMMARY An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which Received for publication 25 November 1983. Accepted for publication 29 November 1983."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.4.307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:22:10Z","timestamp":1760739730000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.4.307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,8]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1984,8,1]]},"published-print":{"date-parts":[[1984,8]]}},"alternative-id":["10.1136\/jmg.21.4.307"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.4.307","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,8]]}}}