20q11.2 microdeletion

The American Journal of Medical Genetics published a new study by Jedraszak et al.: “Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.” This issue is published online on February 18th 2015.

Until 2014 the 20q11.21 microdeletion was not connected to a specific disease. While Iourov et al. (2013) suggested that the interstitial microdeletion of the 20q11.21 chromosome could be a contribution to the phenotype BOS as an example of a nonmutated ASXL1 loss, Posmyk et al. (2014) proposed to form another group because the children are very similar to each other and are distinguishable from other BOS children in terms of disease progression. The results of the article by Jedraszak et al. (2015) support the hypothesis that the 20q11.2 microdeletion syndrome is a new contiguous gene deletion syndrome with a recognizable phenotype.