Diagnóstico molecular de los síndromes de Prader-Willi y de Angelman: análisis de metilación, citogenética y FISH / Methylation, citogenetic and FISH tests in the molecular diagnosis of Prader-Willi and Angelman syndromes
Rev. méd. Chile
; 129(4): 367-74, abr. 2001. ilus, tab
Article
em Es
| LILACS
| ID: lil-286998
Biblioteca responsável:
CL1.1
ABSTRACT
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 andmethods:
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 percent) and 6 of 25 patients with Angelman syndrome (24 percent).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
Texto completo:
1
Índice:
LILACS
Assunto principal:
Síndrome de Prader-Willi
/
Síndrome de Angelman
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2001
Tipo de documento:
Article