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)
|