{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T07:26:34Z","timestamp":1725348394485},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T00:00:00Z","timestamp":1047340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe an 8.5\u2010year\u2010old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present. Tentative clinical diagnoses during the 6\u2010year follow\u2010up included Down, Hennekam, and Noonan syndromes. Refinement of cytogenetic techniques, especially increase of banding resolution in conventional cytogenetic analysis, gave the clue to the correct diagnosis, which was proven by fluorescence in situ hybridization (FISH) with whole chromosome paints and single copy probes. We could show that he had an unbalanced translocation inherited from his father resulting in partial monosomy 18p and partial trisomy 20p. The combination of deletion 18p\/duplication 20p was previously reported in three patients and seems to have a clinically recognizable face. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20060","type":"journal-article","created":{"date-parts":[[2003,6,27]],"date-time":"2003-06-27T10:01:11Z","timestamp":1056708071000},"page":"429-433","source":"Crossref","is-referenced-by-count":12,"title":["Distal monosomy 18p\/distal trisomy 20p\u2014A recognizable facial phenotype?"],"prefix":"10.1002","volume":"120A","author":[{"given":"Dagmar","family":"Wieczorek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.3.229"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200378"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440314"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10243"},{"key":"e_1_2_5_6_1","first-page":"54","article-title":"Partial trisomy 20","volume":"24","author":"Delicado A","year":"1981","journal-title":"Ann Gent"},{"key":"e_1_2_5_7_1","volume-title":"New chromosomal syndromes","author":"Francke U","year":"1977"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03398.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340429"},{"key":"e_1_2_5_10_1","unstructured":"http:\/\/www.ncbi.nlm.nih.gov\/cgi\u2010bin\/Entrez\/map_search"},{"key":"e_1_2_5_11_1","first-page":"397","article-title":"Epicanthal folds and the problem of telecanthus","volume":"83","author":"Mustard\u00e9 J","year":"1963","journal-title":"Trans Ophthalmol Soc UK"},{"key":"e_1_2_5_12_1","first-page":"468","article-title":"Associated noncardiac malformations in children with congenital heart disease","volume":"63","author":"Noonan JA","year":"1963","journal-title":"J Pediatr"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<316::AID-AJMG4>3.0.CO;2-Z"},{"key":"e_1_2_5_14_1","first-page":"35","article-title":"Inversi\u00f3n peric\u00e9ntrica familiar del cromosoma 20. 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