{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:21Z","timestamp":1791041901416,"version":"4.1.0"},"reference-count":7,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found. Follow-up showed continued overgrowth and disturbed glucose homeostasis, a marked developmental delay, and severe behavioural problems especially caused by anxieties. Array comparative genomic hybridization analysis showed a de novo 12q24.31 interstitial deletion, which was confirmed by fluorescence in situ hybridization. The deleted region contains amongst others: HNF1 homeobox A &lt;i&gt;(HNF1A)&lt;\/i&gt; which is important for the regulation of gene expression in the liver and involved in maturity-onset diabetes of the young type 3 and insulin resistance; acyl-CoA dehydrogenase short chain &lt;i&gt;(ACADS)&lt;\/i&gt; which encodes an enzyme important in mitochondrial fatty acid beta-oxidation and can cause short-chain acyl-CoA dehydrogenese (SCAD) deficiency, and purinergic receptor P2X7 &lt;i&gt;(P2RX7)&lt;\/i&gt; which encodes a ligand-gated ion channel, and of which polymorphisms are found with increased frequency in patients with psychiatric disorders, especially anxieties. We conclude the present patient has a hitherto undescribed contiguous gene syndrome, which can initially resemble Beckwith-Wiedemann syndrome.<\/jats:p>","DOI":"10.1159\/000275671","type":"journal-article","created":{"date-parts":[[2010,2,12]],"date-time":"2010-02-12T07:50:32Z","timestamp":1265961032000},"page":"42-45","source":"Crossref","is-referenced-by-count":25,"title":["A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally"],"prefix":"10.1159","volume":"1","author":[{"given":"E.","family":"Baple","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,1,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.b.30857"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI9340"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1158%2F1055-9965.EPI-08-1037"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pmed.0040118"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819990521%2984%3A2%3C116%3A%3AAID-AJMG6%3E3.0.CO%3B2-3"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1001%2Fjama.296.8.943"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.c.30058"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/275671","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/275671","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:13:27Z","timestamp":1745442807000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000275671"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2010,2,1]]},"published-print":{"date-parts":[[2010,2,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000275671","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}