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Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi / Clinical, genetic and molecular features in 45 patients with Prader-Willi Syndrome
Cortés M, Fanny; Alliende R, M. Angélica; Barrios R, Andrés; Curotto L, Bianca; Santa María V, Lorena; Barraza O, Ximena; Troncoso A, Ledia; Mellado S, Cecilia; Pardo V, Rosa.
Affiliation
  • Cortés M, Fanny; Universidad de Chile. Instituto de Nutrición y Tecnología de los Alimentos. Unidad de Genética y Enfermedades Metabólicas. CL
  • Alliende R, M. Angélica; Universidad de Chile. Instituto de Nutrición y Tecnología de los Alimentos. Unidad de Genética y Enfermedades Metabólicas. CL
  • Barrios R, Andrés; Universidad de Chile. Instituto de Nutrición y Tecnología de los Alimentos. Unidad de Genética y Enfermedades Metabólicas. CL
  • Curotto L, Bianca; Universidad de Chile. Instituto de Nutrición y Tecnología de los Alimentos. Unidad de Genética y Enfermedades Metabólicas. CL
  • Santa María V, Lorena; Universidad de Chile. Instituto de Nutrición y Tecnología de los Alimentos. Unidad de Genética y Enfermedades Metabólicas. CL
  • Barraza O, Ximena; Hospital Regional de Valdivia. Valdivia. CL
  • Troncoso A, Ledia; Hospital San Borja Arriarán. Servicio de Neurología Infantil. CL
  • Mellado S, Cecilia; Universidad Católica de Chile. Hospital Clínico. Sección Genética. CL
  • Pardo V, Rosa; Universidad de Chile. INTA. Unidad de Genética y Enfermedades Metabólicas. CL
Rev. méd. Chile ; 133(1): 33-41, ene. 2005. ilus, tab
Article in Es | LILACS | ID: lil-398014
Responsible library: CL12.1
RESUMO

Background:

Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 112.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause of genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25percent to uniparental disomy and 1percent to mutations in the imprinting center.

Aim:

To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and

methods:

Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA.

Results:

Twenty three (51.1percent) patients had a delection, 13 (28.9percent) patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients aged 12 months or less, the clinical score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion.

Conclusions:

Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS .
Subject(s)
Full text: 1 Index: LILACS Main subject: Prader-Willi Syndrome Type of study: Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do sul / Chile Language: Es Journal: Rev. méd. Chile Journal subject: MEDICINA Year: 2005 Type: Article
Full text: 1 Index: LILACS Main subject: Prader-Willi Syndrome Type of study: Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do sul / Chile Language: Es Journal: Rev. méd. Chile Journal subject: MEDICINA Year: 2005 Type: Article