{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T17:16:26Z","timestamp":1768497386968,"version":"3.49.0"},"reference-count":6,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,2]]},"abstract":"<jats:p>A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome associated with ring chromosome 14, r(14), has been established, no distinct pattern has been so far reported in 14q-.<\/jats:p>","DOI":"10.1136\/jmg.26.2.130","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"130-133","source":"Crossref","is-referenced-by-count":25,"title":["A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation."],"prefix":"10.1136","volume":"26","author":[{"given":"F S","family":"Yen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P E","family":"Podruch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Weisskopf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,2,1]]},"reference":[{"key":"ref_1","first-page":"317","article-title":"A complex translocation involving chromosomes 3, 11, and 14 with an interstitial deletion, del(14)(ql3q22) in a child with congenital glaucoma and cleft lip and palate","author":"l Buchanan P; K, Rao; C, Doerr; A, Aylsworth","year":"1978","unstructured":"l Buchanan P, Rao K, Doerr C, Aylsworth A. A complex translocation involving chromosomes 3, 11, and 14 with an interstitial deletion, del(14)(ql3q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects 1978;XIV (6c):317-22.","journal-title":"Birth Defects"},{"key":"ref_2","first-page":"237","article-title":"Two patients with interstitial del(14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-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(14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet (Paris) 1984;27:237-40.","journal-title":"Ann Genet (Paris)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1136\/jmg.20.2.147","article-title":"Distal monosomy 14 not associated with ring formation","volume":"20","author":"Hreidarsson, S.; Stamberg, J.","year":"1983","unstructured":"Hreidarsson S, Stamberg J. Distal monosomy 14 not associated with ring formation. J Med Genet 1983;20:147-9.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/jmg.15.3.236","article-title":"Deletion 14q and pericentric inversion 14","volume":"15","author":"Nielsen, J.; Homma, A.; Rasmussen, K.; Ried, E.; Sorensen, K.; Saldana-Garcia, P.","year":"1978","unstructured":"Nielsen J, Homma A, Rasmussen K, Ried E, Sorensen K, Saldana-Garcia P. Deletion 14q and pericentric inversion 14. 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