22q and two: 22q11.2 deletion syndrome and coexisting conditions

Abstract excerpt

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000-4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome-wide mutations, CNVs, or mutations/CNVs on the other allele, unmasking autosomal recessive...

Topics

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

• Share to Congenital Ear and Nasal Anomalies
• Share to Congenital heart defects research
• Share to Genomic variations and chromosomal abnormalities