RT Journal Article
SR Electronic
T1 Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 547
OP 553
DO 10.1136/jmedgenet-2012-100967
VO 49
IS 9
A1 Matthias Begemann
A1 Sabrina Spengler
A1 Magdalena Gogiel
A1 Ute Grasshoff
A1 Michael Bonin
A1 Regina C Betz
A1 Andreas Dufke
A1 Isabel Spier
A1 Thomas Eggermann
YR 2012
UL http://jmg.bmj.com/content/49/9/547.abstract
AB 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 give an overview on the genotype–phenotype correlation in chromosomal rearrangements in 11p15 as the basis for a directed genetic counselling. The detailed characterisation of patients and families helps to further delineate risk figures for syndromes associated with 11p15 disturbances. Furthermore, these cases provide us with profound insights in the complex regulation of the (imprinted) factors localised in 11p15.