{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:19Z","timestamp":1791353539110,"version":"4.3.1"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,4]]},"abstract":"<jats:p>A fetus is described with anophthalmia, absent pituitary, hypoplastic adrenal glands and kidneys, absent left horn of the uterus, underdeveloped genitalia, and clinodactyly, with a deletion of 14(q22q23). A review of published reports found no similar deletion cases.<\/jats:p>","DOI":"10.1136\/jmg.28.4.280","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"280-281","source":"Crossref","is-referenced-by-count":65,"title":["Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities."],"prefix":"10.1136","volume":"28","author":[{"given":"C P","family":"Bennett","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D R","family":"Betts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J","family":"Seller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,4,1]]},"reference":[{"key":"ref_1","article-title":"We thank Miss Raju, Consultant Obstetrician, for referring this patient, Dr N Fagg for the histology, and the Spastics Society for financial support","unstructured":"We thank Miss Raju, Consultant Obstetrician, for referring this patient, Dr N Fagg for the histology, and the Spastics Society for financial support."},{"key":"ref_2","first-page":"237","article-title":"Two patients with interstitial del(l4q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-l-antitrypsin)","volume":"27","author":"Turleau, C.; de Grouchy, J.; Chavin-Colin, F.","year":"1984","unstructured":"Turleau C, de Grouchy J, Chavin-Colin F, et al. Two patients with interstitial del(l4q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-l-antitrypsin). Ann Genet (Paris) 1984;27:237-40.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","first-page":"32","article-title":"A case of partial monosomy 14q","volume":"48","author":"Kawamura, G.; Suzuki, M.; Segawa, T.","year":"1985","unstructured":"Kawamura G, Suzuki M, Segawa T, et al. A case of partial monosomy 14q. J Pediatr Pract (7pn) 1985;48:32-4.","journal-title":"J Pediatr Pract"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/BF00282092","article-title":"Deletion 14q(q24.3 to q32. 1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi (a,-antitrypsin)","volume":"74","author":"Yamamoto, Y.; Sawa, R.; Okamoto, N.","year":"1986","unstructured":"Yamamoto Y, Sawa R, Okamoto N, et al. Deletion 14q(q24.3 to q32. 1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi (a,-antitrypsin). Hun Genet 1986;74:190-2.","journal-title":"Hun Genet"},{"key":"ref_5","first-page":"317","article-title":"A complex translocation involving chromosomes 3, 11 and 14 with an interstitial deletion, del(l4Xql3q22) in a child with congenital glaucoma and cleft lip and palate","volume-title":"No 6c","volume":"14","author":"Buchanan, P.D.; Rao, K.W.; Doerr, C.L.; etal","year":"1978","unstructured":"Buchanan PD, Rao KW, Doerr CL, etal. A complex translocation involving chromosomes 3, 11 and 14 with an interstitial deletion, del(l4Xql3q22) in a child with congenital glaucoma and cleft lip and palate. In: Birth defects. Vol 14, No 6c. New York: Alan R Liss, 1978:317-22."},{"key":"ref_6","first-page":"341","article-title":"Anophthalnie bilaterale, anomalies de la face et translocation","volume":"22","author":"Serville, F.; Broustet, A.; Peyeresblangues, J.","year":"1974","unstructured":"Serville F, Broustet A, Peyeresblangues J, et al. Anophthalnie bilaterale, anomalies de la face et translocation t(4;14). J Genet Hwn 1974;22:341-51.","journal-title":"J Genet Hwn"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ajmg.1320360307","article-title":"Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia","volume":"36","author":"Keppen, L.D.; Brodsky, M.C.; Michael, J.M.","year":"1990","unstructured":"Keppen LD, Brodsky MC, Michael JM, et al. Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia. Am J Med Genet 1990;36:285-7.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.4.280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:11:49Z","timestamp":1760767909000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.4.280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,4]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1991,4,1]]},"published-print":{"date-parts":[[1991,4]]}},"alternative-id":["10.1136\/jmg.28.4.280"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.4.280","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,4]]}}}