Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

ABSTRACT: Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal region contribute to two distinct imprinting disorders associated with disturbed growth, Silver-Russell and Beckwith-Wiedemann syndromes. Due to the complexity of the 11p15 imprinting regions and their interactions, the interpretation of the copy number variations in that region is complicated. The clinical outcome in case of microduplications or microdeletions is therefore influenced by the size, the breakpoint positions and the parental inheritance of the imbalance as well as by the imprinting status of the affected genes. Based on their own new cases and those from the literature, the authors gi

SUBMITTER: Begemann M 

PROVIDER: S-EPMC3439641 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature