Article
Family studies in Prader-Willi syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Webb T, Hardy C A, Dahlitz M, Watkiss E, Clarke D
Abstract excerpt
Clinical, cytogenetic and molecular studies have been undertaken in the families of 52 probands with Prader-Willi syndrome. The maternal age at the birth of a proband with a deletion in 15p11q13 was on average 8 years less than that of the mothers of probands with uniparental disomy (UPD), the paternal age was on average 7 years less. Seven probands with UPD were all female, as were 7 patients who had neither a...
Topics
- Adult
- Child
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA Probes
- Female
- Humans
- Male
- Models, Genetic
- Phenotype
- Polymerase Chain Reaction