Article
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
BMC genetics - 4 Jan 2008
Wang Nicholas J, Parokonny Alexander S, Thatcher Karen N, Driscoll Jennette, Malone Barbara M, Dorrani Naghmeh, Sigman Marian, LaSalle Janine M, Schanen N Carolyn
Abstract excerpt
BACKGROUND: Maternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectrum disorders1. The duplications most often take the form of a supernumerary pseudodicentric derivative chromosome 15 [der(15)] that has been called inverted...
Topics
- Angelman Syndrome
- Blotting, Southern
- Brain
- Cell Line
- Chromosome Aberrations
- Chromosomes, Artificial, Bacterial
- Chromosomes, Human, Pair 15
- DNA Methylation
- Female
- Gene Duplication