Article
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.
American journal of human genetics - 1 May 1994
Leana-Cox J, Jenkins L, Palmer C G, Plattner R, Sheppard L, Flejter W L, Zackowski J, Tsien F, Schwartz S
Abstract excerpt
Twenty-seven cases of inverted duplications of chromosome 15 (inv dup [15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the re...
Topics
- Adolescent
- Adult
- Angelman Syndrome
- Cell Line
- Child
- Child, Preschool
- Chromosome Banding
- Chromosome Inversion
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn