In copy number variation (CNV), sections of DNA are duplicated or deleted. CNVs have been found in patients with idiopathic SS, small for gestational age (SGA) and Silver-Russell syndrome (SRS) phenotypes. We think that CNV may contribute to the phenotype in patients with undiagnosed short stature. Therefore, we are currently investigating all the undiagnosed patients in our cohort and all new referrals for pathogenic CNVs.
This is part of a current research project and is a collaboration with the Genetic Centre at Guy's Hospital.