{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:49:07Z","timestamp":1760906947297,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,9]]},"abstract":"<jats:p>We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.<\/jats:p>","DOI":"10.1136\/jmg.34.9.777","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"777-778","source":"Crossref","is-referenced-by-count":22,"title":["Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly."],"prefix":"10.1136","volume":"34","author":[{"given":"C P","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C C","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L F","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C Y","family":"Chuang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S W","family":"Jan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B F","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,9,1]]},"reference":[{"key":"ref_1","first-page":"269","article-title":"Holoprosencephaly associated with","volume":"49","author":"Levin, S.W.; Surana, R.B.","year":"1483","unstructured":"Levin SW, Surana RB. Holoprosencephaly associated with 46,XX,del(14)(qll.1q13). Proc 8th Int Congr Hum Genet, abst 1483. Am J Hum Genet Suppl 1991;49:269.","journal-title":"46, XX, del(14)(qll.1q13). Proc 8th Int Congr Hum Genet, abst; Am J Hum Genet Suppl"},{"issue":"46","key":"ref_2","first-page":"61","article-title":"Two siblings with interstitial deletion of chromosome","volume-title":"No to Hattatsu (Brain Dev","volume":"14","author":"Kodoma, M.; Kai, Y.; Sugino, S.; Inokuchi, N.; Miike, T.","year":"1990","unstructured":"Kodoma M, Kai Y, Sugino S, Inokuchi N, Miike T. Two siblings with interstitial deletion of chromosome 14 [46,XX,del(14)(ql2q13.3)]. No to Hattatsu (Brain Dev) 1990;22:61-5."},{"key":"ref_3","first-page":"30","article-title":"First case of deletion 14qll.2ql3","volume":"37","author":"Grammatico, P.; de Sanctis, S.; di Rosa, C.; Cupilari, F.; del Porto, G.","year":"1994","unstructured":"Grammatico P, de Sanctis S, di Rosa C, Cupilari F, del Porto G. First case of deletion 14qll.2ql3. 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