Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH

Background: 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 w...

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Autores principales:	Santa María V,Lorena, Curotto L,Bianca, Cortés M,Fanny, Rojas B,Cecilia, Alliende R,M Angélica
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2001
Materias:	Angelman syndrome Cytogenetics mutation Prader-Willi syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000400004
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spelling	oai:scielo:S0034-988720010004000042003-04-10Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISHSanta María V,LorenaCurotto L,BiancaCortés M,FannyRojas B,CeciliaAlliende R,M Angélica Angelman syndrome Cytogenetics mutation Prader-Willi syndrome Background: 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)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.129 n.4 20012001-04-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000400004es10.4067/S0034-98872001000400004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Angelman syndrome Cytogenetics mutation Prader-Willi syndrome
spellingShingle	Angelman syndrome Cytogenetics mutation Prader-Willi syndrome Santa María V,Lorena Curotto L,Bianca Cortés M,Fanny Rojas B,Cecilia Alliende R,M Angélica Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH
description	Background: 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)
author	Santa María V,Lorena Curotto L,Bianca Cortés M,Fanny Rojas B,Cecilia Alliende R,M Angélica
author_facet	Santa María V,Lorena Curotto L,Bianca Cortés M,Fanny Rojas B,Cecilia Alliende R,M Angélica
author_sort	Santa María V,Lorena
title	Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH
title_short	Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH
title_full	Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH
title_fullStr	Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH
title_full_unstemmed	Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH
title_sort	diagnóstico molecular de los síndromes de prader-willi y de angelman: análisis de metilación, citogenética y fish
publisher	Sociedad Médica de Santiago
publishDate	2001
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000400004
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Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH

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