Prader-Willi syndrome: Genetic tests and clinical findings

Prader-Willi syndrome: Genetic tests and clinical findings

Autor Fridman, C. Google Scholar
Varela, M. C. Google Scholar
Kok, F. Google Scholar
Setian, N. Google Scholar
Koiffmann, C. P. Google Scholar
Instituição Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Resumo Here we describe the genetic studies performed in 53 patients with the suspected diagnosis of Prader-Willi syndrome (PWS), PWS is characterized by neonatal hypotonia, hypogonadism, delayed psychomotor development, hyperphagia, obesity, short stature, small hands and feet, learning disabilities, and obsessive-compulsive behavior. Through the methylation analysis of the SNRPN gene, microsatellite studies of loci mapped within and outside the PWS/AS region, and fluorescence in situ hybridization (FISH) study, we confirmed the diagnosis in 35 patients: 27 with a paternal deletion, and 8 with maternal uniparental disomy (UPD), the clinical comparisons between deleted and UPD patients indicated that there were no major phenotype differences, except for a lower birth length observed in the UPD children. Our sample was composed of more girls than boys; UPD patients were diagnosed earlier than the deleted cohort (2(10/12) vs. 7(9/12) years); and, in the deleted group, the boys were diagnosed earlier than the girls (5(2/12) vs. 7(8/12) years, respectively).
Idioma Inglês
Data de publicação 2000-12-01
Publicado em Genetic Testing. Larchmont: Mary Ann Liebert Inc Publ, v. 4, n. 4, p. 387-392, 2000.
ISSN 1090-6576 (Sherpa/Romeo, fator de impacto)
Publicador Mary Ann Liebert Inc Publ
Extensão 387-392
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000166980700009
Endereço permanente

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