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[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome].

Revista medica de Chile - 1 Jan 2005

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

Abstract excerpt

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...

Topics

Adolescent
Adult
Child
Child, Preschool
Chile
Female
Gene Deletion
Humans
Infant
Infant, Newborn
Male
Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Prader-Willi Syndrome

Retrospective Studies

Source

Identifiers

PMID: 15768148
DOI: 10.4067/s0034-98872005000100005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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