{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074195,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,12]]},"abstract":"<jats:p>A male child is described with some growth and developmental delay and other minor dysmorphic features. Chromosome analysis showed a de novo deletion of the q33----qter terminal segment of a chromosome 4. There has been published discussion concerning the severity of phenotypic malformations in the seven cases described so far with this particular deletion. We add details of our patient to help to delineate further features of this syndrome.<\/jats:p>","DOI":"10.1136\/jmg.26.12.776","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"776-778","source":"Crossref","is-referenced-by-count":13,"title":["Del(4)(q33----qter): another case report of a child with mild dysmorphism."],"prefix":"10.1136","volume":"26","author":[{"given":"K A","family":"Fagan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R B","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,12,1]]},"reference":[{"key":"ref_1","article-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin: Walter de Gruyter, 1984."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/ajmg.1320080110","article-title":"Deletions of different segments of the long arm of chromosome 4","volume":"8","author":"Mitchell, J.A.; Packman, S.; Loughman, W.D.","year":"1981","unstructured":"Mitchell JA, Packman S, Loughman WD, et al. Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 1981;8:73-89.","journal-title":"Am J Med Genet"},{"key":"ref_3","first-page":"187","article-title":"Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion","volume":"24","author":"Fryns, J.P.; Timmermans, J.; Hoedemaekers, J.; Emmery, L.; van den Berghe, H.","year":"1981","unstructured":"Fryns JP, Timmermans J, Hoedemaekers J, Emmery L, van den Berghe H. Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion. Ann Genet (Paris) 1981;24:187-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1136\/jmg.23.5.474","article-title":"A terminal deletion of the long arm of chromosome 4[46, XX, del(4) (q33)] in an infant with phenotypic features of Williams syndrome","volume":"23","author":"Jefferson, R.D.; Burn, J.; Gaunt, K.L.; Hunter, S.; Davison, E.V.","year":"1986","unstructured":"Jefferson RD, Burn J, Gaunt KL, Hunter S, Davison EV. A terminal deletion of the long arm of chromosome 4[46,XX,del(4) (q33)] in an infant with phenotypic features of Williams syndrome. J Med Genet 1986;23:474-80.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1399-0004.1982.tb00748.x","article-title":"Terminal deletion (4)(q33) in a male infant","volume":"21","author":"Stamberg, J.; Jabs, E.W.; Elias, E.","year":"1982","unstructured":"Stamberg J, Jabs EW, Elias E. Terminal deletion (4)(q33) in a male infant. Clin Genet 1982;21:125-9.","journal-title":"Clin Genet"},{"key":"ref_6","first-page":"348","article-title":"Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33","volume-title":"Clin Genet","volume":"22","author":"Tomkins, D.J.; Hunter, A.G.W.; Uchida, I.A.; Roberts, M.H.","year":"1982","unstructured":"Tomkins DJ, Hunter AGW, Uchida IA, Roberts MH. Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin Genet 1982;22:348-55."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ajmg.1320140221","article-title":"Deletion of chromosome 4q33-8qter. Is it different from 4q31-*qter deletion syndrome?","volume":"14","author":"Tuchman, M.; Ebrehimi, J.; Gorlin, R.J.","year":"1983","unstructured":"Tuchman M, Ebrehimi J, Gorlin RJ. Deletion of chromosome 4q33-8qter. Is it different from 4q31-*qter deletion syndrome? Am J Med Genet 1983;14:391-3.","journal-title":"Am J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1399-0004.1983.tb00077.x","article-title":"Chromosome preparations of whole blood lymphocytes: an improved method","volume":"24","author":"Ibraimov, A.","year":"1983","unstructured":"Ibraimov A. Chromosome preparations of whole blood lymphocytes: an improved method. Clin Genet 1983;24:240-2.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.12.776","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:44:38Z","timestamp":1760769878000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.12.776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,12]]},"references-count":8,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1989,12,1]]},"published-print":{"date-parts":[[1989,12]]}},"alternative-id":["10.1136\/jmg.26.12.776"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.12.776","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,12]]}}}