SciELO - Scientific Electronic Library Online

vol.133 número1Curso clínico de la nefropatía membranosa lúpica puraSusceptibilidad a antimicrobianos de Streptococcus pneumoniae en poblacion infantil y adulta de Santiago: Periodo 1997-2003 índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados




Links relacionados


Revista médica de Chile

versão impressa ISSN 0034-9887


CORTES M, Fanny et al. Clinical, genetic and molecular features in 45 patients with Prader-Willi Syndrome. Rev. méd. Chile [online]. 2005, vol.133, n.1, pp.33-41. ISSN 0034-9887.

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 1:12.000-15.000 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, 20-25% to uniparental disomy and 1% 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 (51.1%) patients had a delection, 13 (28.9%) 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 (Rev Méd Chile 2005; 133: 33-41).

Palavras-chave : Abnormalities, multiple; Mental retardation; Prader-Willi syndrome.

        · texto em Espanhol     · Espanhol ( pdf )


Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons