Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome

Abstract

Abstract Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications.

Keywords

• 16q
• copy number variants
• Distal duplication of chromosome 16
• intrafamilial variability
• psychiatric predisposition