Prader-Willi Syndrome: Genetic Tests and Clinical Findings
- 19 December 2000
- journal article
- research article
- Published by Mary Ann Liebert Inc in Genetic Testing
- Vol. 4 (4), 387-392
- https://doi.org/10.1089/109065700750065144
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 (210/12 vs. 79/12 years); and, in the deleted group, the boys were diagnosed earlier than the girls (52/12 vs. 78/12 years, respectively).Keywords
This publication has 29 references indexed in Scilit:
- Imprinting-Mutation Mechanisms in Prader-Willi SyndromeAmerican Journal of Human Genetics, 1999
- Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndromeAmerican Journal of Medical Genetics, 1998
- The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionNature Genetics, 1997
- Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutationAmerican Journal of Medical Genetics, 1997
- Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneNature Genetics, 1996
- Interstitial 6q deletion and Prader‐Willi‐like phenotypeClinical Genetics, 1996
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15Nature Genetics, 1995
- De novo interstitial deletion q16.2q21 on chromosome 6American Journal of Medical Genetics, 1995
- Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomyHuman Molecular Genetics, 1993
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975