Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologi
Relaxation of imprinting in Prader-Willi syndrome
β Scribed by P. K. Rogan; James R. Seip; Lisa M. White; S. L. Wenger; Mark W. Steele; Mark A. Sperling; Ram Menon; Joan H. M. Knoll
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 186 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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Several recent studies have suggested the presence of mosaicism for a deletion, detected by fluorescence in situ hybridization (FISH), within chromosome 15q11-q13 in Prader-Willi syndrome (PWS) [Mowery-Rushton et al., 1996;Malzac et al., 1998;Golden et al., 1999]. However, the evidence supporting mo
## Abstract Genomic imprinting is an epigenetic mechanism resulting in the preferential expression of the maternal or paternal alleles of a specific subset of genes in the mammalian genome. A key but relatively unexplored question is how imprints are established in the germline. New observations^(1