{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:41:22Z","timestamp":1759725682275,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,2]]},"abstract":"<jats:p>A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.<\/jats:p>","DOI":"10.1136\/jmg.19.1.71","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"71-73","source":"Crossref","is-referenced-by-count":19,"title":["A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25)."],"prefix":"10.1136","volume":"19","author":[{"given":"M C","family":"Higginbottom","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J T","family":"Mascarello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Hassin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W K","family":"McCord","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,2,1]]},"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: karyotype: 46 XY, del(3) (p25)","volume":"132","author":"Verjaal, M.; De Nef, J.","year":"1978","unstructured":"Verjaal M, De Nef J. A patient with a partial deletion of the short arm of chromosome 3: karyotype: 46 XY,del(3) (p25). Am J Dis Child 1978;132:43-5.","journal-title":"Am J Dis Child"},{"key":"ref_2","article-title":"The phenotype of partial monosomy 3 (p25-pter) observed in two unrelated patients. Abstract from Symposium","volume-title":"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. Abstract from Symposium of the European Society of Human Genetics, Zurich, 26-28 March 1981: 69."},{"article-title":"The proband was born to a 35-year-old father and a 32-year-old mother. The patient, her father, and her Supported in part by grants HD 11021, HD 02840, CA 19822, HD 82855, HD 04134, from the National Institutes of Health","year":"1981","key":"ref_3","unstructured":"The proband was born to a 35-year-old father and a 32-year-old mother. The patient, her father, and her Supported in part by grants HD 11021, HD 02840, CA 19822, HD 82855, HD 04134, from the National Institutes of Health. Received for publication 26 April 1981"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.1.71","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:24:31Z","timestamp":1759724671000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.1.71"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,2]]},"references-count":3,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1982,2,1]]},"published-print":{"date-parts":[[1982,2]]}},"alternative-id":["10.1136\/jmg.19.1.71"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.1.71","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,2]]}}}