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
Dans Espagnol
| LILACS
| ID: lil-286998
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
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Syndrome de Prader-Willi
/
Syndrome d'Angelman
Type d'étude:
Etude diagnostique
Limites du sujet:
Adolescent
/
Adulte
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Bébé
/
Mâle
langue:
Espagnol
Texte intégral:
Rev. méd. Chile
Thème du journal:
Médicament
Année:
2001
Type:
Article
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