{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:52Z","timestamp":1760906932532,"version":"build-2065373602"},"reference-count":7,"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>We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas.<\/jats:p>","DOI":"10.1136\/jmg.35.10.865","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"865-867","source":"Crossref","is-referenced-by-count":4,"title":["Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype."],"prefix":"10.1136","volume":"35","author":[{"given":"R G","family":"Hutcheon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Mallik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Shaham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","first-page":"227","article-title":"The cri-du-chat syndrome: epidemiology, cytogenetics, and clinical features","volume":"44","author":"Niebuhr, E.","year":"1978","unstructured":"Niebuhr E. The cri-du-chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978;44:227-75.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/S0022-3476(80)80189-2","article-title":"Psychomotor development in 65 home-reared children with cri-du-chat syndrome","volume":"97","author":"Wilkins, L.E.; Brown, J.A.; Wolf, B.","year":"1980","unstructured":"Wilkins LE, Brown JA, Wolf B. Psychomotor development in 65 home-reared children with cri-du-chat syndrome. Pediatr 1980;97:401-5.","journal-title":"Pediatr"},{"key":"ref_3","first-page":"1162","article-title":"Molecular definition of deletions of different segments of distal 5p that result in distinct phenotype features","volume":"56","author":"Church, D.M.; Bengtsson, U.; Nielsen, K.V.; Wasmuth, J.J.; Niebuhr, E.","year":"1995","unstructured":"Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. 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Dover, MA: Center for Birth Defects Information Services Inc, 1990:381-2."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/ajmg.1320420507","article-title":"Del(18p) syndrome with complex tetralogy of Fallot in an infant with 45, X, t(Y; 18)(ql2; ql 1.2)","volume":"42","author":"S, El Kalla; AR, Matthews; NS, Menon","year":"1992","unstructured":"El Kalla S, Matthews AR, Menon NS. Del(18p) syndrome with complex tetralogy of Fallot in an infant with 45,X,t(Y; 18)(ql2;ql 1.2). Am JMed Genet 1992;42:665-6.","journal-title":"Am JMed Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0888-7543(92)90193-V","article-title":"Somatic cell hybrid deletion map of human chromosome 18","volume":"13","author":"Kline, A.D.; Rojas, K.; Mewar, R.; Moshinsky, D.; Overhauser, J.","year":"1992","unstructured":"Kline AD, Rojas K, Mewar R, Moshinsky D, Overhauser J. Somatic cell hybrid deletion map of human chromosome 18. Genomics 1992;13:1-6.","journal-title":"Genomics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.10.865","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:46:13Z","timestamp":1760723173000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.10.865"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":7,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1998,10,1]]},"published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1136\/jmg.35.10.865"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.10.865","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}