{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T19:03:10Z","timestamp":1778698990046,"version":"3.51.4"},"reference-count":13,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.<\/jats:p>","DOI":"10.1136\/jmg.35.10.857","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"857-861","source":"Crossref","is-referenced-by-count":24,"title":["Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting."],"prefix":"10.1136","volume":"35","author":[{"given":"A F","family":"Davies","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Imaizumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Mirza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Stephens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Kuroki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Matsuno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Ragoussis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1111\/j.1399-0004.1987.tb03340.x","article-title":"Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6","volume":"32","author":"Eiberg, H.; Bixler, D.; Nielsen, L.; Conneally, P.M.; Mohr, J.","year":"1987","unstructured":"Eiberg H, Bixler D, Nielsen L, Conneally PM, Mohr J. 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Chromosome breakage hot spots in 9p and delineation of the critical region for the 9p deletion syndrome. 1996. scw9, www.gne.ucl.ac.uk\/chr9\/scw96\/abstract.html"},{"key":"ref_9","first-page":"157","article-title":"Detailed characterisation of six cases with 6p deletions by FISH: delineation of the syndrome","volume":"61","author":"Ragoussis, J.; Davies, A.F.; Mirza, G.","year":"1997","unstructured":"Ragoussis J, Davies AF, Mirza G, et al. Detailed characterisation of six cases with 6p deletions by FISH: delineation of the syndrome. AmJ Hum Genet 1997;61:A157.","journal-title":"AmJ Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1542\/peds.100.2.180","article-title":"Associated malformations in infants with cleft lip and palate: a prospective, population based study","volume":"100","year":"1997","unstructured":"Milerad J, Larson 0, Hagberg C, Ideberg M. 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Identification of a large duplicated gene cluster region at the common deletion breakpoints of Prader-Willi and Angelman syndromes. 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