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dc.creatorSanta María V,Lorena
dc.creatorCurotto L,Bianca
dc.creatorCortés M,Fanny
dc.creatorRojas B,Cecilia
dc.creatorAlliende R,M Angélica
dc.date2001-04-01
dc.date.accessioned2020-02-17T15:29:18Z
dc.date.available2020-02-17T15:29:18Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000400004
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/128441
dc.descriptionBackground: The diagnosis of Prader-Willi and Angelman syndromes is difficult, since their phenotypic manifestations are variable and unspecific. The study of the methylation state of DNA in l5(q11-q13) using polymerase chain reaction, called methylation test, allows the diagnosis of most patients with Prader-Willi and Angelman syndromes, irrespective if the underlying molecular alteration is a deletion, uniparental disomy or a punctual imprinting mutation. Aim: To assess the effectiveness of methylation test in the diagnosis of Prader-Willi and Angelman syndromes. Patients and methods: Thirty seven cases with a presumptive diagnosis of Prader-Willi syndrome and 25 with the presumptive diagnosis of Angelman syndrome were studied. Methylation test was done in genomic DNA obtained from peripheral Iymphocytes. Results: Methylation test confirmed the clinical diagnosis in 11 of 37 patients with PraderWilli (30%) and 6 of 25 patients with Angelman syndrome (24%). Conclusions: Clinical criteria overestimate the diagnosis of Prader-Willi and Angelman syndromes. The initial diagnosis should be confirmed with the methylation test and, if necessary, with FISH that will detect most deletions in the region. (Rev Méd Chile 2001, 129: 367-374)
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dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872001000400004
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.129 n.4 2001
dc.subjectAngelman syndrome Cytogenetics
dc.subjectmutation
dc.subjectPrader-Willi syndrome
dc.titleDiagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH


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