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.

Citation: Team links gene duplications, deletions within chromosome region to nonsyndromic bicuspid aortic valve disease (2025, January 15) retrieved 17 January 2025 from https://medicalxpress.com ...

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 ...