{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:49:09Z","timestamp":1788306549474,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,8,14]],"date-time":"2012-08-14T00:00:00Z","timestamp":1344902400000},"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":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the case of a 12\u2010year\u2010old Hispanic male with a clinical and molecular diagnosis of Simpson\u2013Golabi\u2013Behmel Syndrome (SGBS) who subsequently developed metastatic medulloblastoma. While individuals with SGBS have been documented to have increased risk for intra\u2010abdominal tumors such as Wilms tumor and neuroblastoma, medulloblastomas, or CNS tumors in general, have not been reported in patients with this syndrome. Our patient was clinically diagnosed with SGBS as an infant. He presented with many of the common features of the syndrome, such as cleft palate, macroglossia, post\u2010axial polydactyly, \u201ccoarse\u201d facial features, and ventricular septal defects (VSDs). Molecular testing performed in April 2009 confirmed the SGBS diagnosis. This testing detected a large intragenic deletion in the <jats:italic>GPC3<\/jats:italic> gene (more than 500\u2009kb, 8 exons) extending from intron 2, 37\u2009kb downstream of exon 2, to the 5\u2032 end of the gene, deleting exons 1 and 2. However, subsequent testing by gene\u2010centric high\u2010density array comparative genomic hybridization (aCGH) detected a deletion encompassing only exon 2. Therefore, the exact 5\u2032 boundary of the deletion cannot currently be determined, due to an apparent complex rearrangement upstream of exon 1. We present this case of metastatic medulloblastoma as a unique malignancy in a patient with SGBS. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35284","type":"journal-article","created":{"date-parts":[[2012,8,14]],"date-time":"2012-08-14T15:30:08Z","timestamp":1344958208000},"page":"2534-2536","source":"Crossref","is-referenced-by-count":21,"title":["Metastatic medulloblastoma in an adolescent with Simpson\u2013Golabi\u2013Behmel syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Martha","family":"Thomas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Enciso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Stratton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shafqat","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Winder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Tayeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Roeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,14]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<268::AID-AJMG7>3.0.CO;2-I"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.146.1.255"},{"key":"e_1_2_4_4_1","first-page":"373","volume-title":"Advances in human genetics","author":"Cohen MM","year":"1998"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/11.3.19R"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30064"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9831"},{"key":"e_1_2_4_9_1","first-page":"241","article-title":"Mutations in GCP3, a glypican gene, cause the Simpson\u2010Golabi\u2010Behmel syndrome","volume":"12","author":"Pilia G","year":"1996","journal-title":"Nature"},{"key":"e_1_2_4_10_1","first-page":"413","article-title":"GPC3 expression correlates with the phenotype of the Simpson\u2010Golabi\u2010Behmel syndrome","volume":"213","author":"Pelligrini M","year":"1998","journal-title":"Dev Dynam"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30920"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31822"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590310"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35284","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:22:18Z","timestamp":1697635338000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,14]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/ajmg.a.35284"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35284","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,14]]}}}