The chromosome 22 sequence turned out to be a good preview of what the whole genome had in store. The spacing of repeated sequences along the chromosome and the presence of large-scale duplications ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

Recently published in Heart, the research revealed that rare duplications and deletions within the 22q11.2 region, particularly involving genes associated with cardiac development, were identified in ...