Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

Abstract excerpt

Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occur with a frequency equal to the deletion. However, few...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital heart defects research
• Share to Congenital Heart Disease Studies
• Share to Tissue Engineering and Regenerative Medicine