{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:23:07Z","timestamp":1774560187801,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Bundesministerium f\u00fcr Bildung und Forschung (BMBF) Network","award":["\u201cMR-NET\u201d 01GS08166"],"award-info":[{"award-number":["\u201cMR-NET\u201d 01GS08166"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>We report on a de novo 0.5\u2009Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10\u2010year\u2010old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy\u2013Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3\u20134, feet 2\u20133), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the <jats:italic>FOXK2<\/jats:italic> gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36155","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:31:34Z","timestamp":1376674294000},"page":"3144-3149","source":"Crossref","is-referenced-by-count":17,"title":["Severe intellectual disability, West syndrome, Dandy\u2013Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3"],"prefix":"10.1002","volume":"161","author":[{"given":"Karl","family":"Hackmann","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Medizinische Fakult\u00e4t Carl Gustav Carus Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Stadler","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Medizinische Fakult\u00e4t Carl Gustav Carus Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"Schallner","sequence":"additional","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder\u2010 und Jugendmedizin Universit\u00e4tsklinikum Carl Gustav Carus Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathlen","family":"Franke","sequence":"additional","affiliation":[{"name":"Mitteldeutscher Praxisverbund Humangenetik \u00dcber\u00f6rtliche Gemeinschaftspraxis Dresden Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva\u2010Maria","family":"Gerlach","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Medizinische Fakult\u00e4t Carl Gustav Carus Technische Universit\u00e4t Dresden Dresden 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