{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:22:31Z","timestamp":1760833351652,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,5]]},"abstract":"<jats:p>A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The coexistence of Klinefelter's syndrome (47,XXY) is of minor significance in relation to this child's phenotype.<\/jats:p>","DOI":"10.1136\/jmg.30.5.436","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"436-437","source":"Crossref","is-referenced-by-count":6,"title":["Probable de novo 17q duplication (q11.2--&gt;q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome."],"prefix":"10.1136","volume":"30","author":[{"given":"A M","family":"Butt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Goodeve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F A","family":"Flinter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,5,1]]},"reference":[{"key":"ref_1","first-page":"287","article-title":"Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder","volume":"6","author":"Berberich, M.S.; Carey, J.C.; Lawce, H.J.; Hall, B.D.","year":"1978","unstructured":"Berberich MS, Carey JC, Lawce HJ, Hall BD. Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder. Birth Defects 1978;6C:287-95.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/BF00569357","article-title":"Partial trisomy 17q","volume":"49","author":"Fryns, J.P.; Parloir, C.; Van den Berghe, H.","year":"1979","unstructured":"Fryns JP, Parloir C, Van den Berghe H. Partial trisomy 17q. Hum Genet 1979;49:361-4.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1111\/j.1399-0004.1979.tb00849.x","article-title":"Distal trisomy 17q","volume":"16","author":"Turleau, C.; de Grouchy, J.; Bouveret, J.P.","year":"1979","unstructured":"Turleau C, de Grouchy J, Bouveret JP. Distal trisomy 17q. 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