Article
[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 1998
Dupont J M, Cuisset L
Abstract excerpt
Prader-Willi and Angelman syndromes are two genetic diseases whose clinical diagnosis is often impaired by a wide variability in some clinical findings. New insights in the genetic basis of these disorders allow the proposition of a biological approach to detect almost all Prader-Willi syndrome p...
Topics
- Algorithms
- Angelman Syndrome
- Chromosomes, Human, Pair 15
- DNA Methylation
- Gene Deletion
- Genetic Counseling
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Phenotype
- Prader-Willi Syndrome