{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T10:21:21Z","timestamp":1779358881493,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T00:00:00Z","timestamp":1279152000000},"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":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 4\u2010year\u2010old girl with severe developmental delay, absent speech, and chromosome 22q13.3 deletion (Phelan\u2013McDermid syndrome), karyotype 46,XX.ish del(22)(q13.31qter)(ARSA\u2010,N85A\u2010,SHANK3\u2010). At the age of 3 years, she needed an emergency liver transplantation because of fulminant hepatic failure, most likely caused by hyperacute autoimmune hepatitis triggered by a viral infection. This is the second report of a patient with 22q13.3 deletion and fulminant liver failure. By array\u2010CGH we identified in this patient a 5.675\u2009Mb terminal deletion (22q13.31\u2009\u2192\u2009qter; including \u223c55 genes; from <jats:italic>NUP50<\/jats:italic> to <jats:italic>RABL2B<\/jats:italic>) and in the previous patient a 1.535\u2009Mb deletion (22q13.32\u2009\u2192\u2009qter; including \u223c39 genes; from <jats:italic>BRD1<\/jats:italic> to <jats:italic>RABL2B<\/jats:italic>). <jats:italic>PIM3<\/jats:italic> is a prime candidate gene for the fulminant hepatic failure in the two patients; <jats:italic>SHANK3<\/jats:italic>\/<jats:italic>PROSAP2<\/jats:italic> could be another candidate gene. We recommend liver function tests and array\u2010CGH in the management of patients with Phelan\u2013McDermid syndrome. This patient showed a developmental catch\u2010up following the liver transplantation, possibly suggesting that chronic hepatic disease could contribute to the developmental delay in a subset of these patients. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33542","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T20:53:22Z","timestamp":1279227202000},"page":"2099-2102","source":"Crossref","is-referenced-by-count":14,"title":["Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Oliver","family":"Bartsch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eberhard","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalja","family":"Damatova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger","family":"Weis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Tufano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Iorio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alischo","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"Zechner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Haaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,20]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"231","article-title":"Hepatocellular 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