{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:56Z","timestamp":1761718076992,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,5]]},"abstract":"<jats:p>We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1\/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.<\/jats:p>","DOI":"10.1136\/jmg.28.5.352","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"352-355","source":"Crossref","is-referenced-by-count":32,"title":["Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype."],"prefix":"10.1136","volume":"28","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Binkert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D M","family":"Lillington","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Sands","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R J","family":"Stocks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R H","family":"Lindenbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Matthews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Sheridan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,5,1]]},"reference":[{"key":"ref_1","article-title":"Catalogue of unbalanced chromosome aberratins in man","author":"Schinzel, A.","year":"1984","unstructured":"Schinzel A. Catalogue of unbalanced chromosome aberratins in man. Berlin: Walter de Gruyter, 1984."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.1320030207","article-title":"Syndromes associated with deletion of the long arm of chromosome 18[del(18q)J","volume":"3","author":"Wilson, M.G.; Towner, J.W.; Forsman, I.; Siris, E.","year":"1979","unstructured":"Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)J. AmJ Med Genet 1979;3:155-74.","journal-title":"AmJ Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmg.25.9.635","article-title":"Prenatal diagnosis of mosaicism for del(18) (ql2.2q21.1) and a normal cell line","volume":"25","author":"Wilson, M.G.; Lin, M.S.","year":"1988","unstructured":"Wilson MG, Lin MS. Prenatal diagnosis of mosaicism for del(18) (ql2.2q21.1) and a normal cell line. J Med Genet 1988;25: 635-6.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1136\/jmg.26.1.62","article-title":"Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18(ql2.2 q21.l)","volume":"26","author":"Wilson, G.N.; Al Saadi, A.A.","year":"1989","unstructured":"Wilson GN, Al Saadi AA. Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18(ql2.2 q21.l). J Med Genet 1989;26:62-3.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.5.352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:36:50Z","timestamp":1760765810000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.5.352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,5]]},"references-count":4,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1991,5,1]]},"published-print":{"date-parts":[[1991,5]]}},"alternative-id":["10.1136\/jmg.28.5.352"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.5.352","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,5]]}}}