Prader-Willi syndrome: genetic tests and clinical findings.

Abstract

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) s. 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).

• Authors: C Fridman, M C Varela, F Kok, N Setian, C P Koiffmann
• Journal: Genetic testing (Genet Test) Vol. 4 Issue 4 Pg. 387-92 ( 2000) ISSN: 1090-6576 [Print] United States
• PMID: 11216664 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Cohort Studies
• DNA Methylation
• Female
• Genotype
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Lymphocytes
• Male
• Microsatellite Repeats (genetics)
• Phenotype
• Prader-Willi Syndrome (diagnosis, genetics, physiopathology)
• Sequence Deletion (genetics)