{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T19:10:19Z","timestamp":1735672219209,"version":"3.32.0"},"reference-count":15,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2002,12]]},"abstract":"<jats:p>Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.<\/jats:p>","DOI":"10.1590\/s0004-282x2002000600024","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T14:33:23Z","timestamp":1113575603000},"page":"1011-1014","source":"Crossref","is-referenced-by-count":7,"title":["A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect"],"prefix":"10.1590","volume":"60","author":[{"given":"Greice Andreotti","family":"De Molfetta","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Temis Maria","family":"Felix","sequence":"additional","affiliation":[{"name":"Hospital de Clinicas de Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[{"name":"Hospital de Clinicas de Porto Alegre, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor Evangelista de Faria","family":"Ferraz","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Monteiro de","family":"Pina Neto","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1056\/NEJM198102053040604","article-title":"Deletions of chromosome 15 as cause of the Prader-Willi syndrome","volume":"304","author":"Ledbetter DH","year":"1981","journal-title":"N Eng J 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gene (UBE3A) in Angelman syndrome","volume":"15","author":"Matsuura T","year":"1997","journal-title":"Nat Genet","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1136\/jmg.30.11.895","article-title":"Molecular mechanisms in Angelman syndrome: a survey of 93 patients","volume":"30","author":"Chan CT","year":"1993","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1320560224","article-title":"Angelman syndrome: consensus for diagnostic criteria","volume":"56","author":"Williams CA","year":"1995","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1542\/peds.91.2.398","article-title":"Prader-Willi syndrome: consensus for diagnostic 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