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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
Santa María V., Lorena; Curotto L., Bianca; Cortés M., Fanny; Rojas B., Cecilia; Alliende R., María Angélica.
Affiliation
  • Santa María V., Lorena; Universidad de Chile. INTA. Unidad de Genética y Enfermedades Metabólicas.
  • Curotto L., Bianca; Universidad de Chile. Unidad de Genética y Enfermedades Metabólicas.
  • Cortés M., Fanny; Universidad de Chile. Unidad de Genética y Enfermedades Metabólicas.
  • Rojas B., Cecilia; Universidad de Chile. Unidad de Genética y Enfermedades Metabólicas.
  • Alliende R., María Angélica; Universidad de Chile. Unidad de Genética y Enfermedades Metabólicas.
Rev. méd. Chile ; 129(4): 367-74, abr. 2001. ilus, tab
Article in Es | LILACS | ID: lil-286998
Responsible library: 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 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 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
Subject(s)
Full text: 1 Index: LILACS Main subject: Prader-Willi Syndrome / Angelman Syndrome Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Language: Es Journal: Rev. méd. Chile Journal subject: MEDICINA Year: 2001 Type: Article
Full text: 1 Index: LILACS Main subject: Prader-Willi Syndrome / Angelman Syndrome Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Language: Es Journal: Rev. méd. Chile Journal subject: MEDICINA Year: 2001 Type: Article