{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T21:29:14Z","timestamp":1778102954012,"version":"3.51.4"},"reference-count":27,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,1]]},"abstract":"<jats:p>Three unrelated, mentally retarded boys with typical blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) were found to have chromosomal aberrations. One of them had a del(3)(p25), another patient had a de novo translocation t(2; 3), which after high resolution banding combined with chromosome painting was interpreted to be unbalanced with a loss of band q23. The third patient had a del(7)(q34). The phenotypes of the two patients with chromosome 3 related syndromes were similar, but the third also had genital malformations resembling the Smith-Lemli-Opitz syndrome. This patient had a palatal ridge, and a single mesial maxillary tooth suggesting the holoprosencephaly sequence, but CT scans of the brain were normal.<\/jats:p>","DOI":"10.1136\/jmg.32.1.19","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"19-24","source":"Crossref","is-referenced-by-count":37,"title":["Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay."],"prefix":"10.1136","volume":"32","author":[{"given":"M","family":"Warburg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Bugge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Br\u00f8ndum-Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,1,1]]},"reference":[{"key":"ref_1","first-page":"1020","article-title":"The blepharophimosis, ptosis, epicanthus inversus syndrome: delineation of two types","volume":"35","author":"Zlotogora, J.; Sagi, M.; Cohen, T.","year":"1983","unstructured":"Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, epicanthus inversus syndrome: delineation of two types. Am Jf Hum Genet 1983;35:1020-7.","journal-title":"Am Jf Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/0166-4328(87)90246-4","article-title":"Acuity card testing of retarded children","volume":"24","author":"Hertz, B.G.","year":"1987","unstructured":"Hertz BG. Acuity card testing of retarded children. Behav Brain Res 1987;24:85-92.","journal-title":"Behav Brain Res"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/BF00295457","article-title":"Chromosomes in the Cornelia de Lange syndrome","volume":"59","author":"Beck, B.; Mikkelsen, M.","year":"1981","unstructured":"Beck B, Mikkelsen M. Chromosomes in the Cornelia de Lange syndrome. Hum Genet 1981;59:271-6.","journal-title":"Hum Genet"},{"key":"ref_4","first-page":"211","article-title":"Partial deletion ofthe short arm ofchromosome 3. Eur JPediatr","volume":"136","author":"Merrild, U.; Berggren, S.; Hansen, L.; Mikkelsen, M.; Henningsen, K.","year":"1981","unstructured":"Merrild U, Berggren S, Hansen L, Mikkelsen M, Henningsen K. Partial deletion ofthe short arm ofchromosome 3. Eur JPediatr 1981;136:211-16."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0015-0282(16)60309-6","article-title":"An association between blepharophimosis, resistant ovary syndrome, and true premature menopause","volume":"50","author":"Fraser, I.S.; Shearman, R.P.; Smith, A.; Russell, M.B.B.S.","year":"1988","unstructured":"Fraser IS, Shearman RP, Smith A, Russell MBBS. An association between blepharophimosis, resistant ovary syndrome, and true premature menopause. 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Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? Am J Med Genet 1993;47:487-9.","journal-title":"Am J Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1002\/ajmg.1320470802","article-title":"Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22.3 and 3q23","volume":"47","author":"Jewett, T.; Rao, P.N.; Weaver, R.G.; Stewart, W.; Thomas, I.T.; Pettenati, M.J.","year":"1993","unstructured":"Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22.3 and 3q23. 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Ophthal Paediatr Genet 1987; 8:105-18.","journal-title":"Ophthal Paediatr Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.1.19","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:18:16Z","timestamp":1760739496000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.1.19"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1995,1,1]]},"published-print":{"date-parts":[[1995,1]]}},"alternative-id":["10.1136\/jmg.32.1.19"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.1.19","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1]]}}}