{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:42:48Z","timestamp":1789425768952,"version":"build-2803163510"},"reference-count":16,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,8]]},"abstract":"<jats:p>We describe a 32 year old male with a distal 6p24.3--&gt;pter deletion. He has specific developmental anomalies of the anterior chamber of the eye and a cleft uvula which is consistent with the recent localisation of genes for iris development and orofacial clefting to distal 6p. In addition he has progressive sensorineural deafness and this may localise a gene for deafness to this region. We conclude that a refined distal 6p deletion syndrome exists and includes a characteristic facial appearance with hypertelorism, downward slanting palpebral fissures, tented mouth, smooth philtrum, palatal malformation, ear anomalies, anterior chamber eye defects, progressive sensorineural deafness, cardiac defects, abdominal herniae, small external genitalia, and motor and speech delay.<\/jats:p>","DOI":"10.1136\/jmg.35.8.685","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"685-689","source":"Crossref","is-referenced-by-count":46,"title":["Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports."],"prefix":"10.1136","volume":"35","author":[{"given":"C J","family":"Law","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A M","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I K","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,8,1]]},"reference":[{"key":"ref_1","first-page":"214","article-title":"A case of partial monosomy 6p","volume":"27","author":"Ouchi, K.; Kasai, R.","year":"1982","unstructured":"Ouchi K, Kasai R. A case of partial monosomy 6p. JpnJ Hum Genet 1982;27:214.","journal-title":"JpnJ Hum Genet"},{"key":"ref_2","first-page":"659","article-title":"Clinical evidence for localisation of HLA proximal of chromosome 6p22","volume":"i:","author":"Sachs, E.S.; Hoogeboom, A.J.M.; Niermeijer, M.F.; Schreuder, G.M.","year":"1983","unstructured":"Sachs ES, Hoogeboom AJM, Niermeijer MF, Schreuder GM. Clinical evidence for localisation of HLA proximal of chromosome 6p22. Lancet 1983;i:659.","journal-title":"Lancet"},{"key":"ref_3","first-page":"217","article-title":"Monosomy for distal segment 6p: clinical description and use in localising a region important for expression of Hageman factor","volume":"17","author":"Reid, C.S.; Stamberg, J.; Phillips, J.A.","year":"1983","unstructured":"Reid CS, Stamberg J, Phillips JA. Monosomy for distal segment 6p: clinical description and use in localising a region important for expression of Hageman factor. 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