{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:26:03Z","timestamp":1771028763652,"version":"3.50.1"},"reference-count":6,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,5]]},"abstract":"<jats:p>A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.<\/jats:p>","DOI":"10.1136\/jmg.24.5.305","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"305-308","source":"Crossref","is-referenced-by-count":28,"title":["A case of de novo interstitial deletion 3q."],"prefix":"10.1136","volume":"24","author":[{"given":"N","family":"Okada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Osawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Fukuyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,5,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"A case report of partial deletion of the long arm of the No 3 chromosome","volume":"4","author":"Arai, K.; Takazawa, Matukiyo H.; H.","year":"1982","unstructured":"Arai K, Matukiyo H. Takazawa H. A case report of partial deletion of the long arm of the No 3 chromosome. Med Genet Res 1982;4:1-4.","journal-title":"Med Genet Res"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ajmg.1320090204","article-title":"Familial interstitial translocation of a portion of 3q into 1 lq resulting in duplication and deletion of region 3q22 1-q24 in different offspring","volume":"9","author":"Williamson, R.A.; Dolan, Donlan M.A.; CR, Thuline; HC, Harrison; MT, Hall; J.G.","year":"1981","unstructured":"Williamson RA, Donlan MA. Dolan CR, Thuline HC, Harrison MT, Hall JG. Familial interstitial translocation of a portion of 3q into 1 lq resulting in duplication and deletion of region 3q22 1-q24 in different offspring. Am J Med Genet 1981;9: 105-11.","journal-title":"Am J Med Genet"},{"key":"ref_3","first-page":"98","article-title":"Interstitial deletion of the long arm of chromosome 3","volume":"26","author":"Martsolf, J.T.; Ray, M.","year":"1983","unstructured":"Martsolf JT, Ray M. Interstitial deletion of the long arm of chromosome 3. Ann Genet (Paris) 1983;26:98-9."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF00289488","article-title":"Interstitial deletion of the long arm of chromosome 3 in a patient with mcntal retardation and congcnital anomalies","volume":"64","year":"1983","unstructured":"Interstitial deletion of the long arm of chromosome 3 in a patient with mcntal retardation and congcnital anomalies. Hum Genet 1983;64:97.","journal-title":"Hum Genet"},{"key":"ref_5","article-title":"deletion 16q syndrome'l which is associated with 16q122-2q13. We have studied two members of a family: the proband with 46, XX, del(16)(pter ql1- 1:: q13-*qter) and her mother with 47","unstructured":"deletion 16q syndrome'l which is associated with 16q122-2q13. We have studied two members of a family: the proband with 46,XX,del(16)(pter ql1-1::q13-*qter) and her mother with 47,XX,del (16)(pter--q1l11::q13--qter)+r(16). Although the association of multiple congenital anomalies with deletions in this region is well known,2-7 this is the first report of an inherited 16q deletion."},{"key":"ref_6","article-title":"Reccived for publication 16 Dcccniber 1985. Revised version accepted for publication","year":"1986","unstructured":"Reccived for publication 16 Dcccniber 1985. Revised version accepted for publication 1(1 March 1986."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.5.305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:53:17Z","timestamp":1760730797000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.5.305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,5]]},"references-count":6,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1987,5,1]]},"published-print":{"date-parts":[[1987,5]]}},"alternative-id":["10.1136\/jmg.24.5.305"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.5.305","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,5]]}}}