Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

Abstract excerpt

Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental...

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