Article
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
European journal of human genetics : EJHG - 1 Mar 2012
Kim Soo-Jeong, Miller Jennifer L, Kuipers Paul J, German Jennifer Ruth, Beaudet Arthur L, Sahoo Trilochan, Driscoll Daniel J
Abstract excerpt
Prader-Willi syndrome (PWS) is a multisystem, contiguous gene disorder caused by an absence of paternally expressed genes within the 15q11.2-q13 region via one of the three main genetic mechanisms: deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. The deletion class is typically subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Cohort Studies
- DNA Copy Number Variations
- DNA Methylation
- Female
- Gene Order
- Humans
- Infant
- Male