All Title Author
Keywords Abstract

Genomic imprinting and human chromosome 15

Keywords: chromosome 15 , chromosome 15 deletions/duplications , genomic imprinting

Full-Text   Cite this paper   Add to My Lib


Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin. The best characterized human disorders resulting from an alteration of the imprinting process are Angelman and Prader-Willi syndromes. They are due to the lack of active maternal or paternal genes, respectively, from chromosome region 15q11q13. Most cases arise via interstitial deletions. We review evidence that other common cytogenetic alterations of this region, interstitial and supernumerary duplications, could be the reciprocal products of the deletions and are also affected by the imprinting phenomenon, given the predominance of maternally-derived duplications in patients ascertained due to developmental delays or autistic features.


comments powered by Disqus

Contact Us


微信:OALib Journal