Scientists found that healthy women can carry genetic changes in their breast cells that are thought to be characteristic of ...

For instance, deletions that span a centromere result in an acentric chromosome that will most likely be lost during cell division. As with duplications, deletions can affect gene dosage and thus ...

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.

Researchers have identified a key gene that drives susceptibility to ‘glue ear’ in people with Down syndrome, paving the way for future targeted therapies.

Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison ...